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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs72206117

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:74565826-74565867 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(CA)12 / del(CA)11 / del(CA)10

del(CA)12 / del(CA)11 / del(CA)10 / del(CA)9 / del(CA)8 / del(CA)7 / del(CA)6 / del(CA)5 / del(CA)4 / del(CA)3 / delCACA / delCA / dupCA / dupCACA / dup(CA)3 / dup(CA)4 / dup(CA)5 / dup(CA)6 / dup(CA)7 / dup(CA)8 / dup(CA)9 / dup(CA)12

Variation Type
Indel Insertion and Deletion
Frequency
del(CA)3=0.0148 (74/5008, 1000G)
(CA)21=0.0687 (313/4554, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
M1AP : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 4554 CACACACACACACACACACACACACACACACACACACACACA=0.0687 CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACA=0.0305, CACACACACACACACACACACACACACACACACACACACA=0.7567, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0334, CACACACACACACACACACACACACACACACACACACACACACA=0.0659, CACACACACACACACACACACACACACACACACACACACACACACA=0.0329, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0119, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000 0.037604 0.867431 0.094965 32
European Sub 4486 CACACACACACACACACACACACACACACACACACACACACA=0.0564 CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACA=0.0310, CACACACACACACACACACACACACACACACACACACACA=0.7671, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0334, CACACACACACACACACACACACACACACACACACACACACACA=0.0667, CACACACACACACACACACACACACACACACACACACACACACACA=0.0334, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0120, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000 0.018868 0.88419 0.096942 32
African Sub 46 CACACACACACACACACACACACACACACACACACACACACA=1.00 CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
African Others Sub 2 CACACACACACACACACACACACACACACACACACACACACA=1.0 CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0 1.0 0.0 0.0 N/A
African American Sub 44 CACACACACACACACACACACACACACACACACACACACACA=1.00 CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 CACACACACACACACACACACACACACACACACACACACACA=0 CACACACACACACACACA=0, CACACACACACACACACACA=0, CACACACACACACACACACACA=0, CACACACACACACACACACACACA=0, CACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0 0 0 0 N/A
East Asian Sub 0 CACACACACACACACACACACACACACACACACACACACACA=0 CACACACACACACACACA=0, CACACACACACACACACACA=0, CACACACACACACACACACACA=0, CACACACACACACACACACACACA=0, CACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0 0 0 0 N/A
Other Asian Sub 0 CACACACACACACACACACACACACACACACACACACACACA=0 CACACACACACACACACA=0, CACACACACACACACACACA=0, CACACACACACACACACACACA=0, CACACACACACACACACACACACA=0, CACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0 0 0 0 N/A
Latin American 1 Sub 0 CACACACACACACACACACACACACACACACACACACACACA=0 CACACACACACACACACA=0, CACACACACACACACACACA=0, CACACACACACACACACACACA=0, CACACACACACACACACACACACA=0, CACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0 0 0 0 N/A
Latin American 2 Sub 8 CACACACACACACACACACACACACACACACACACACACACA=1.0 CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0 1.0 0.0 0.0 N/A
South Asian Sub 0 CACACACACACACACACACACACACACACACACACACACACA=0 CACACACACACACACACA=0, CACACACACACACACACACA=0, CACACACACACACACACACACA=0, CACACACACACACACACACACACA=0, CACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0 0 0 0 N/A
Other Sub 14 CACACACACACACACACACACACACACACACACACACACACA=0.43 CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.36, CACACACACACACACACACACACACACACACACACACACACACACACA=0.14, CACACACACACACACACACACACACACACACACACACACACACA=0.07, CACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00 0.6 0.4 0.0 3


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
1000Genomes Global Study-wide 5008 (CA)21=0.9774 del(CA)8=0.0012, del(CA)3=0.0148, delCACA=0.0024
1000Genomes African Sub 1322 (CA)21=0.9879 del(CA)8=0.0015, del(CA)3=0.0015, delCACA=0.0023
1000Genomes East Asian Sub 1008 (CA)21=0.9187 del(CA)8=0.0020, del(CA)3=0.0615, delCACA=0.0089
1000Genomes Europe Sub 1006 (CA)21=1.0000 del(CA)8=0.0000, del(CA)3=0.0000, delCACA=0.0000
1000Genomes South Asian Sub 978 (CA)21=0.988 del(CA)8=0.002, del(CA)3=0.008, delCACA=0.000
1000Genomes American Sub 694 (CA)21=0.996 del(CA)8=0.000, del(CA)3=0.003, delCACA=0.000
Allele Frequency Aggregator Total Global 4554 (CA)21=0.0687 del(CA)12=0.0000, del(CA)11=0.0000, del(CA)10=0.0000, del(CA)9=0.0000, del(CA)8=0.0000, del(CA)7=0.0000, del(CA)6=0.0000, del(CA)5=0.0000, del(CA)4=0.0000, del(CA)3=0.0000, delCACA=0.0305, delCA=0.7567, dupCA=0.0659, dupCACA=0.0329, dup(CA)3=0.0334, dup(CA)4=0.0119, dup(CA)5=0.0000, dup(CA)6=0.0000, dup(CA)7=0.0000, dup(CA)8=0.0000, dup(CA)9=0.0000
Allele Frequency Aggregator European Sub 4486 (CA)21=0.0564 del(CA)12=0.0000, del(CA)11=0.0000, del(CA)10=0.0000, del(CA)9=0.0000, del(CA)8=0.0000, del(CA)7=0.0000, del(CA)6=0.0000, del(CA)5=0.0000, del(CA)4=0.0000, del(CA)3=0.0000, delCACA=0.0310, delCA=0.7671, dupCA=0.0667, dupCACA=0.0334, dup(CA)3=0.0334, dup(CA)4=0.0120, dup(CA)5=0.0000, dup(CA)6=0.0000, dup(CA)7=0.0000, dup(CA)8=0.0000, dup(CA)9=0.0000
Allele Frequency Aggregator African Sub 46 (CA)21=1.00 del(CA)12=0.00, del(CA)11=0.00, del(CA)10=0.00, del(CA)9=0.00, del(CA)8=0.00, del(CA)7=0.00, del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00, dup(CA)8=0.00, dup(CA)9=0.00
Allele Frequency Aggregator Other Sub 14 (CA)21=0.43 del(CA)12=0.00, del(CA)11=0.00, del(CA)10=0.00, del(CA)9=0.00, del(CA)8=0.00, del(CA)7=0.00, del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.36, dupCA=0.07, dupCACA=0.00, dup(CA)3=0.14, dup(CA)4=0.00, dup(CA)5=0.00, dup(CA)6=0.00, dup(CA)7=0.00, dup(CA)8=0.00, dup(CA)9=0.00
Allele Frequency Aggregator Latin American 2 Sub 8 (CA)21=1.0 del(CA)12=0.0, del(CA)11=0.0, del(CA)10=0.0, del(CA)9=0.0, del(CA)8=0.0, del(CA)7=0.0, del(CA)6=0.0, del(CA)5=0.0, del(CA)4=0.0, del(CA)3=0.0, delCACA=0.0, delCA=0.0, dupCA=0.0, dupCACA=0.0, dup(CA)3=0.0, dup(CA)4=0.0, dup(CA)5=0.0, dup(CA)6=0.0, dup(CA)7=0.0, dup(CA)8=0.0, dup(CA)9=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (CA)21=0 del(CA)12=0, del(CA)11=0, del(CA)10=0, del(CA)9=0, del(CA)8=0, del(CA)7=0, del(CA)6=0, del(CA)5=0, del(CA)4=0, del(CA)3=0, delCACA=0, delCA=0, dupCA=0, dupCACA=0, dup(CA)3=0, dup(CA)4=0, dup(CA)5=0, dup(CA)6=0, dup(CA)7=0, dup(CA)8=0, dup(CA)9=0
Allele Frequency Aggregator South Asian Sub 0 (CA)21=0 del(CA)12=0, del(CA)11=0, del(CA)10=0, del(CA)9=0, del(CA)8=0, del(CA)7=0, del(CA)6=0, del(CA)5=0, del(CA)4=0, del(CA)3=0, delCACA=0, delCA=0, dupCA=0, dupCACA=0, dup(CA)3=0, dup(CA)4=0, dup(CA)5=0, dup(CA)6=0, dup(CA)7=0, dup(CA)8=0, dup(CA)9=0
Allele Frequency Aggregator Asian Sub 0 (CA)21=0 del(CA)12=0, del(CA)11=0, del(CA)10=0, del(CA)9=0, del(CA)8=0, del(CA)7=0, del(CA)6=0, del(CA)5=0, del(CA)4=0, del(CA)3=0, delCACA=0, delCA=0, dupCA=0, dupCACA=0, dup(CA)3=0, dup(CA)4=0, dup(CA)5=0, dup(CA)6=0, dup(CA)7=0, dup(CA)8=0, dup(CA)9=0
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[9]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[10]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[11]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[12]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[13]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[14]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[15]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[16]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[17]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[18]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[19]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[20]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[22]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[23]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[24]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[25]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[26]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[27]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[28]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[29]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[30]
GRCh38.p14 chr 2 NC_000002.12:g.74565826CA[33]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[9]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[10]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[11]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[12]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[13]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[14]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[15]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[16]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[17]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[18]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[19]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[20]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[22]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[23]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[24]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[25]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[26]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[27]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[28]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[29]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[30]
GRCh37.p13 chr 2 NC_000002.11:g.74792953CA[33]
Gene: M1AP, meiosis 1 associated protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
M1AP transcript variant 3 NM_001281296.2:c.1075-344…

NM_001281296.2:c.1075-3444TG[9]

N/A Intron Variant
M1AP transcript variant 4 NM_001321739.2:c.1075-344…

NM_001321739.2:c.1075-3444TG[9]

N/A Intron Variant
M1AP transcript variant 1 NM_138804.5:c.1075-3444TG…

NM_138804.5:c.1075-3444TG[9]

N/A Intron Variant
M1AP transcript variant 2 NM_001281295.2:c. N/A Genic Downstream Transcript Variant
M1AP transcript variant X10 XM_005264152.4:c.343-3444…

XM_005264152.4:c.343-3444TG[9]

N/A Intron Variant
M1AP transcript variant X6 XM_006711946.4:c.1189-344…

XM_006711946.4:c.1189-3444TG[9]

N/A Intron Variant
M1AP transcript variant X8 XM_011532550.3:c.1075-344…

XM_011532550.3:c.1075-3444TG[9]

N/A Intron Variant
M1AP transcript variant X9 XM_011532551.3:c.1075-344…

XM_011532551.3:c.1075-3444TG[9]

N/A Intron Variant
M1AP transcript variant X5 XM_024452711.2:c.1075-557…

XM_024452711.2:c.1075-5576TG[9]

N/A Intron Variant
M1AP transcript variant X1 XM_047443430.1:c.1015-344…

XM_047443430.1:c.1015-3444TG[9]

N/A Intron Variant
M1AP transcript variant X2 XM_047443431.1:c.901-3444…

XM_047443431.1:c.901-3444TG[9]

N/A Intron Variant
M1AP transcript variant X3 XM_047443432.1:c.901-3444…

XM_047443432.1:c.901-3444TG[9]

N/A Intron Variant
M1AP transcript variant X4 XM_047443433.1:c.1075-557…

XM_047443433.1:c.1075-5576TG[9]

N/A Intron Variant
M1AP transcript variant X7 XM_047443434.1:c.1075-344…

XM_047443434.1:c.1075-3444TG[9]

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (CA)21= del(CA)12 del(CA)11 del(CA)10 del(CA)9 del(CA)8 del(CA)7 del(CA)6 del(CA)5 del(CA)4 del(CA)3 delCACA delCA dupCA dupCACA dup(CA)3 dup(CA)4 dup(CA)5 dup(CA)6 dup(CA)7 dup(CA)8 dup(CA)9 dup(CA)12
GRCh38.p14 chr 2 NC_000002.12:g.74565826_74565867= NC_000002.12:g.74565826CA[9] NC_000002.12:g.74565826CA[10] NC_000002.12:g.74565826CA[11] NC_000002.12:g.74565826CA[12] NC_000002.12:g.74565826CA[13] NC_000002.12:g.74565826CA[14] NC_000002.12:g.74565826CA[15] NC_000002.12:g.74565826CA[16] NC_000002.12:g.74565826CA[17] NC_000002.12:g.74565826CA[18] NC_000002.12:g.74565826CA[19] NC_000002.12:g.74565826CA[20] NC_000002.12:g.74565826CA[22] NC_000002.12:g.74565826CA[23] NC_000002.12:g.74565826CA[24] NC_000002.12:g.74565826CA[25] NC_000002.12:g.74565826CA[26] NC_000002.12:g.74565826CA[27] NC_000002.12:g.74565826CA[28] NC_000002.12:g.74565826CA[29] NC_000002.12:g.74565826CA[30] NC_000002.12:g.74565826CA[33]
GRCh37.p13 chr 2 NC_000002.11:g.74792953_74792994= NC_000002.11:g.74792953CA[9] NC_000002.11:g.74792953CA[10] NC_000002.11:g.74792953CA[11] NC_000002.11:g.74792953CA[12] NC_000002.11:g.74792953CA[13] NC_000002.11:g.74792953CA[14] NC_000002.11:g.74792953CA[15] NC_000002.11:g.74792953CA[16] NC_000002.11:g.74792953CA[17] NC_000002.11:g.74792953CA[18] NC_000002.11:g.74792953CA[19] NC_000002.11:g.74792953CA[20] NC_000002.11:g.74792953CA[22] NC_000002.11:g.74792953CA[23] NC_000002.11:g.74792953CA[24] NC_000002.11:g.74792953CA[25] NC_000002.11:g.74792953CA[26] NC_000002.11:g.74792953CA[27] NC_000002.11:g.74792953CA[28] NC_000002.11:g.74792953CA[29] NC_000002.11:g.74792953CA[30] NC_000002.11:g.74792953CA[33]
M1AP transcript variant 3 NM_001281296.1:c.1075-3403= NM_001281296.1:c.1075-3444TG[9] NM_001281296.1:c.1075-3444TG[10] NM_001281296.1:c.1075-3444TG[11] NM_001281296.1:c.1075-3444TG[12] NM_001281296.1:c.1075-3444TG[13] NM_001281296.1:c.1075-3444TG[14] NM_001281296.1:c.1075-3444TG[15] NM_001281296.1:c.1075-3444TG[16] NM_001281296.1:c.1075-3444TG[17] NM_001281296.1:c.1075-3444TG[18] NM_001281296.1:c.1075-3444TG[19] NM_001281296.1:c.1075-3444TG[20] NM_001281296.1:c.1075-3444TG[22] NM_001281296.1:c.1075-3444TG[23] NM_001281296.1:c.1075-3444TG[24] NM_001281296.1:c.1075-3444TG[25] NM_001281296.1:c.1075-3444TG[26] NM_001281296.1:c.1075-3444TG[27] NM_001281296.1:c.1075-3444TG[28] NM_001281296.1:c.1075-3444TG[29] NM_001281296.1:c.1075-3444TG[30] NM_001281296.1:c.1075-3444TG[33]
M1AP transcript variant 3 NM_001281296.2:c.1075-3403= NM_001281296.2:c.1075-3444TG[9] NM_001281296.2:c.1075-3444TG[10] NM_001281296.2:c.1075-3444TG[11] NM_001281296.2:c.1075-3444TG[12] NM_001281296.2:c.1075-3444TG[13] NM_001281296.2:c.1075-3444TG[14] NM_001281296.2:c.1075-3444TG[15] NM_001281296.2:c.1075-3444TG[16] NM_001281296.2:c.1075-3444TG[17] NM_001281296.2:c.1075-3444TG[18] NM_001281296.2:c.1075-3444TG[19] NM_001281296.2:c.1075-3444TG[20] NM_001281296.2:c.1075-3444TG[22] NM_001281296.2:c.1075-3444TG[23] NM_001281296.2:c.1075-3444TG[24] NM_001281296.2:c.1075-3444TG[25] NM_001281296.2:c.1075-3444TG[26] NM_001281296.2:c.1075-3444TG[27] NM_001281296.2:c.1075-3444TG[28] NM_001281296.2:c.1075-3444TG[29] NM_001281296.2:c.1075-3444TG[30] NM_001281296.2:c.1075-3444TG[33]
M1AP transcript variant 4 NM_001321739.2:c.1075-3403= NM_001321739.2:c.1075-3444TG[9] NM_001321739.2:c.1075-3444TG[10] NM_001321739.2:c.1075-3444TG[11] NM_001321739.2:c.1075-3444TG[12] NM_001321739.2:c.1075-3444TG[13] NM_001321739.2:c.1075-3444TG[14] NM_001321739.2:c.1075-3444TG[15] NM_001321739.2:c.1075-3444TG[16] NM_001321739.2:c.1075-3444TG[17] NM_001321739.2:c.1075-3444TG[18] NM_001321739.2:c.1075-3444TG[19] NM_001321739.2:c.1075-3444TG[20] NM_001321739.2:c.1075-3444TG[22] NM_001321739.2:c.1075-3444TG[23] NM_001321739.2:c.1075-3444TG[24] NM_001321739.2:c.1075-3444TG[25] NM_001321739.2:c.1075-3444TG[26] NM_001321739.2:c.1075-3444TG[27] NM_001321739.2:c.1075-3444TG[28] NM_001321739.2:c.1075-3444TG[29] NM_001321739.2:c.1075-3444TG[30] NM_001321739.2:c.1075-3444TG[33]
M1AP transcript variant 1 NM_138804.4:c.1075-3403= NM_138804.4:c.1075-3444TG[9] NM_138804.4:c.1075-3444TG[10] NM_138804.4:c.1075-3444TG[11] NM_138804.4:c.1075-3444TG[12] NM_138804.4:c.1075-3444TG[13] NM_138804.4:c.1075-3444TG[14] NM_138804.4:c.1075-3444TG[15] NM_138804.4:c.1075-3444TG[16] NM_138804.4:c.1075-3444TG[17] NM_138804.4:c.1075-3444TG[18] NM_138804.4:c.1075-3444TG[19] NM_138804.4:c.1075-3444TG[20] NM_138804.4:c.1075-3444TG[22] NM_138804.4:c.1075-3444TG[23] NM_138804.4:c.1075-3444TG[24] NM_138804.4:c.1075-3444TG[25] NM_138804.4:c.1075-3444TG[26] NM_138804.4:c.1075-3444TG[27] NM_138804.4:c.1075-3444TG[28] NM_138804.4:c.1075-3444TG[29] NM_138804.4:c.1075-3444TG[30] NM_138804.4:c.1075-3444TG[33]
M1AP transcript variant 1 NM_138804.5:c.1075-3403= NM_138804.5:c.1075-3444TG[9] NM_138804.5:c.1075-3444TG[10] NM_138804.5:c.1075-3444TG[11] NM_138804.5:c.1075-3444TG[12] NM_138804.5:c.1075-3444TG[13] NM_138804.5:c.1075-3444TG[14] NM_138804.5:c.1075-3444TG[15] NM_138804.5:c.1075-3444TG[16] NM_138804.5:c.1075-3444TG[17] NM_138804.5:c.1075-3444TG[18] NM_138804.5:c.1075-3444TG[19] NM_138804.5:c.1075-3444TG[20] NM_138804.5:c.1075-3444TG[22] NM_138804.5:c.1075-3444TG[23] NM_138804.5:c.1075-3444TG[24] NM_138804.5:c.1075-3444TG[25] NM_138804.5:c.1075-3444TG[26] NM_138804.5:c.1075-3444TG[27] NM_138804.5:c.1075-3444TG[28] NM_138804.5:c.1075-3444TG[29] NM_138804.5:c.1075-3444TG[30] NM_138804.5:c.1075-3444TG[33]
M1AP transcript variant X1 XM_005264150.1:c.1144-3403= XM_005264150.1:c.1144-3444TG[9] XM_005264150.1:c.1144-3444TG[10] XM_005264150.1:c.1144-3444TG[11] XM_005264150.1:c.1144-3444TG[12] XM_005264150.1:c.1144-3444TG[13] XM_005264150.1:c.1144-3444TG[14] XM_005264150.1:c.1144-3444TG[15] XM_005264150.1:c.1144-3444TG[16] XM_005264150.1:c.1144-3444TG[17] XM_005264150.1:c.1144-3444TG[18] XM_005264150.1:c.1144-3444TG[19] XM_005264150.1:c.1144-3444TG[20] XM_005264150.1:c.1144-3444TG[22] XM_005264150.1:c.1144-3444TG[23] XM_005264150.1:c.1144-3444TG[24] XM_005264150.1:c.1144-3444TG[25] XM_005264150.1:c.1144-3444TG[26] XM_005264150.1:c.1144-3444TG[27] XM_005264150.1:c.1144-3444TG[28] XM_005264150.1:c.1144-3444TG[29] XM_005264150.1:c.1144-3444TG[30] XM_005264150.1:c.1144-3444TG[33]
M1AP transcript variant X2 XM_005264151.1:c.1129-3403= XM_005264151.1:c.1129-3444TG[9] XM_005264151.1:c.1129-3444TG[10] XM_005264151.1:c.1129-3444TG[11] XM_005264151.1:c.1129-3444TG[12] XM_005264151.1:c.1129-3444TG[13] XM_005264151.1:c.1129-3444TG[14] XM_005264151.1:c.1129-3444TG[15] XM_005264151.1:c.1129-3444TG[16] XM_005264151.1:c.1129-3444TG[17] XM_005264151.1:c.1129-3444TG[18] XM_005264151.1:c.1129-3444TG[19] XM_005264151.1:c.1129-3444TG[20] XM_005264151.1:c.1129-3444TG[22] XM_005264151.1:c.1129-3444TG[23] XM_005264151.1:c.1129-3444TG[24] XM_005264151.1:c.1129-3444TG[25] XM_005264151.1:c.1129-3444TG[26] XM_005264151.1:c.1129-3444TG[27] XM_005264151.1:c.1129-3444TG[28] XM_005264151.1:c.1129-3444TG[29] XM_005264151.1:c.1129-3444TG[30] XM_005264151.1:c.1129-3444TG[33]
M1AP transcript variant X3 XM_005264152.1:c.343-3403= XM_005264152.1:c.343-3444TG[9] XM_005264152.1:c.343-3444TG[10] XM_005264152.1:c.343-3444TG[11] XM_005264152.1:c.343-3444TG[12] XM_005264152.1:c.343-3444TG[13] XM_005264152.1:c.343-3444TG[14] XM_005264152.1:c.343-3444TG[15] XM_005264152.1:c.343-3444TG[16] XM_005264152.1:c.343-3444TG[17] XM_005264152.1:c.343-3444TG[18] XM_005264152.1:c.343-3444TG[19] XM_005264152.1:c.343-3444TG[20] XM_005264152.1:c.343-3444TG[22] XM_005264152.1:c.343-3444TG[23] XM_005264152.1:c.343-3444TG[24] XM_005264152.1:c.343-3444TG[25] XM_005264152.1:c.343-3444TG[26] XM_005264152.1:c.343-3444TG[27] XM_005264152.1:c.343-3444TG[28] XM_005264152.1:c.343-3444TG[29] XM_005264152.1:c.343-3444TG[30] XM_005264152.1:c.343-3444TG[33]
M1AP transcript variant X10 XM_005264152.4:c.343-3403= XM_005264152.4:c.343-3444TG[9] XM_005264152.4:c.343-3444TG[10] XM_005264152.4:c.343-3444TG[11] XM_005264152.4:c.343-3444TG[12] XM_005264152.4:c.343-3444TG[13] XM_005264152.4:c.343-3444TG[14] XM_005264152.4:c.343-3444TG[15] XM_005264152.4:c.343-3444TG[16] XM_005264152.4:c.343-3444TG[17] XM_005264152.4:c.343-3444TG[18] XM_005264152.4:c.343-3444TG[19] XM_005264152.4:c.343-3444TG[20] XM_005264152.4:c.343-3444TG[22] XM_005264152.4:c.343-3444TG[23] XM_005264152.4:c.343-3444TG[24] XM_005264152.4:c.343-3444TG[25] XM_005264152.4:c.343-3444TG[26] XM_005264152.4:c.343-3444TG[27] XM_005264152.4:c.343-3444TG[28] XM_005264152.4:c.343-3444TG[29] XM_005264152.4:c.343-3444TG[30] XM_005264152.4:c.343-3444TG[33]
M1AP transcript variant X6 XM_006711946.4:c.1189-3403= XM_006711946.4:c.1189-3444TG[9] XM_006711946.4:c.1189-3444TG[10] XM_006711946.4:c.1189-3444TG[11] XM_006711946.4:c.1189-3444TG[12] XM_006711946.4:c.1189-3444TG[13] XM_006711946.4:c.1189-3444TG[14] XM_006711946.4:c.1189-3444TG[15] XM_006711946.4:c.1189-3444TG[16] XM_006711946.4:c.1189-3444TG[17] XM_006711946.4:c.1189-3444TG[18] XM_006711946.4:c.1189-3444TG[19] XM_006711946.4:c.1189-3444TG[20] XM_006711946.4:c.1189-3444TG[22] XM_006711946.4:c.1189-3444TG[23] XM_006711946.4:c.1189-3444TG[24] XM_006711946.4:c.1189-3444TG[25] XM_006711946.4:c.1189-3444TG[26] XM_006711946.4:c.1189-3444TG[27] XM_006711946.4:c.1189-3444TG[28] XM_006711946.4:c.1189-3444TG[29] XM_006711946.4:c.1189-3444TG[30] XM_006711946.4:c.1189-3444TG[33]
M1AP transcript variant X8 XM_011532550.3:c.1075-3403= XM_011532550.3:c.1075-3444TG[9] XM_011532550.3:c.1075-3444TG[10] XM_011532550.3:c.1075-3444TG[11] XM_011532550.3:c.1075-3444TG[12] XM_011532550.3:c.1075-3444TG[13] XM_011532550.3:c.1075-3444TG[14] XM_011532550.3:c.1075-3444TG[15] XM_011532550.3:c.1075-3444TG[16] XM_011532550.3:c.1075-3444TG[17] XM_011532550.3:c.1075-3444TG[18] XM_011532550.3:c.1075-3444TG[19] XM_011532550.3:c.1075-3444TG[20] XM_011532550.3:c.1075-3444TG[22] XM_011532550.3:c.1075-3444TG[23] XM_011532550.3:c.1075-3444TG[24] XM_011532550.3:c.1075-3444TG[25] XM_011532550.3:c.1075-3444TG[26] XM_011532550.3:c.1075-3444TG[27] XM_011532550.3:c.1075-3444TG[28] XM_011532550.3:c.1075-3444TG[29] XM_011532550.3:c.1075-3444TG[30] XM_011532550.3:c.1075-3444TG[33]
M1AP transcript variant X9 XM_011532551.3:c.1075-3403= XM_011532551.3:c.1075-3444TG[9] XM_011532551.3:c.1075-3444TG[10] XM_011532551.3:c.1075-3444TG[11] XM_011532551.3:c.1075-3444TG[12] XM_011532551.3:c.1075-3444TG[13] XM_011532551.3:c.1075-3444TG[14] XM_011532551.3:c.1075-3444TG[15] XM_011532551.3:c.1075-3444TG[16] XM_011532551.3:c.1075-3444TG[17] XM_011532551.3:c.1075-3444TG[18] XM_011532551.3:c.1075-3444TG[19] XM_011532551.3:c.1075-3444TG[20] XM_011532551.3:c.1075-3444TG[22] XM_011532551.3:c.1075-3444TG[23] XM_011532551.3:c.1075-3444TG[24] XM_011532551.3:c.1075-3444TG[25] XM_011532551.3:c.1075-3444TG[26] XM_011532551.3:c.1075-3444TG[27] XM_011532551.3:c.1075-3444TG[28] XM_011532551.3:c.1075-3444TG[29] XM_011532551.3:c.1075-3444TG[30] XM_011532551.3:c.1075-3444TG[33]
M1AP transcript variant X5 XM_024452711.2:c.1075-5535= XM_024452711.2:c.1075-5576TG[9] XM_024452711.2:c.1075-5576TG[10] XM_024452711.2:c.1075-5576TG[11] XM_024452711.2:c.1075-5576TG[12] XM_024452711.2:c.1075-5576TG[13] XM_024452711.2:c.1075-5576TG[14] XM_024452711.2:c.1075-5576TG[15] XM_024452711.2:c.1075-5576TG[16] XM_024452711.2:c.1075-5576TG[17] XM_024452711.2:c.1075-5576TG[18] XM_024452711.2:c.1075-5576TG[19] XM_024452711.2:c.1075-5576TG[20] XM_024452711.2:c.1075-5576TG[22] XM_024452711.2:c.1075-5576TG[23] XM_024452711.2:c.1075-5576TG[24] XM_024452711.2:c.1075-5576TG[25] XM_024452711.2:c.1075-5576TG[26] XM_024452711.2:c.1075-5576TG[27] XM_024452711.2:c.1075-5576TG[28] XM_024452711.2:c.1075-5576TG[29] XM_024452711.2:c.1075-5576TG[30] XM_024452711.2:c.1075-5576TG[33]
M1AP transcript variant X1 XM_047443430.1:c.1015-3403= XM_047443430.1:c.1015-3444TG[9] XM_047443430.1:c.1015-3444TG[10] XM_047443430.1:c.1015-3444TG[11] XM_047443430.1:c.1015-3444TG[12] XM_047443430.1:c.1015-3444TG[13] XM_047443430.1:c.1015-3444TG[14] XM_047443430.1:c.1015-3444TG[15] XM_047443430.1:c.1015-3444TG[16] XM_047443430.1:c.1015-3444TG[17] XM_047443430.1:c.1015-3444TG[18] XM_047443430.1:c.1015-3444TG[19] XM_047443430.1:c.1015-3444TG[20] XM_047443430.1:c.1015-3444TG[22] XM_047443430.1:c.1015-3444TG[23] XM_047443430.1:c.1015-3444TG[24] XM_047443430.1:c.1015-3444TG[25] XM_047443430.1:c.1015-3444TG[26] XM_047443430.1:c.1015-3444TG[27] XM_047443430.1:c.1015-3444TG[28] XM_047443430.1:c.1015-3444TG[29] XM_047443430.1:c.1015-3444TG[30] XM_047443430.1:c.1015-3444TG[33]
M1AP transcript variant X2 XM_047443431.1:c.901-3403= XM_047443431.1:c.901-3444TG[9] XM_047443431.1:c.901-3444TG[10] XM_047443431.1:c.901-3444TG[11] XM_047443431.1:c.901-3444TG[12] XM_047443431.1:c.901-3444TG[13] XM_047443431.1:c.901-3444TG[14] XM_047443431.1:c.901-3444TG[15] XM_047443431.1:c.901-3444TG[16] XM_047443431.1:c.901-3444TG[17] XM_047443431.1:c.901-3444TG[18] XM_047443431.1:c.901-3444TG[19] XM_047443431.1:c.901-3444TG[20] XM_047443431.1:c.901-3444TG[22] XM_047443431.1:c.901-3444TG[23] XM_047443431.1:c.901-3444TG[24] XM_047443431.1:c.901-3444TG[25] XM_047443431.1:c.901-3444TG[26] XM_047443431.1:c.901-3444TG[27] XM_047443431.1:c.901-3444TG[28] XM_047443431.1:c.901-3444TG[29] XM_047443431.1:c.901-3444TG[30] XM_047443431.1:c.901-3444TG[33]
M1AP transcript variant X3 XM_047443432.1:c.901-3403= XM_047443432.1:c.901-3444TG[9] XM_047443432.1:c.901-3444TG[10] XM_047443432.1:c.901-3444TG[11] XM_047443432.1:c.901-3444TG[12] XM_047443432.1:c.901-3444TG[13] XM_047443432.1:c.901-3444TG[14] XM_047443432.1:c.901-3444TG[15] XM_047443432.1:c.901-3444TG[16] XM_047443432.1:c.901-3444TG[17] XM_047443432.1:c.901-3444TG[18] XM_047443432.1:c.901-3444TG[19] XM_047443432.1:c.901-3444TG[20] XM_047443432.1:c.901-3444TG[22] XM_047443432.1:c.901-3444TG[23] XM_047443432.1:c.901-3444TG[24] XM_047443432.1:c.901-3444TG[25] XM_047443432.1:c.901-3444TG[26] XM_047443432.1:c.901-3444TG[27] XM_047443432.1:c.901-3444TG[28] XM_047443432.1:c.901-3444TG[29] XM_047443432.1:c.901-3444TG[30] XM_047443432.1:c.901-3444TG[33]
M1AP transcript variant X4 XM_047443433.1:c.1075-5535= XM_047443433.1:c.1075-5576TG[9] XM_047443433.1:c.1075-5576TG[10] XM_047443433.1:c.1075-5576TG[11] XM_047443433.1:c.1075-5576TG[12] XM_047443433.1:c.1075-5576TG[13] XM_047443433.1:c.1075-5576TG[14] XM_047443433.1:c.1075-5576TG[15] XM_047443433.1:c.1075-5576TG[16] XM_047443433.1:c.1075-5576TG[17] XM_047443433.1:c.1075-5576TG[18] XM_047443433.1:c.1075-5576TG[19] XM_047443433.1:c.1075-5576TG[20] XM_047443433.1:c.1075-5576TG[22] XM_047443433.1:c.1075-5576TG[23] XM_047443433.1:c.1075-5576TG[24] XM_047443433.1:c.1075-5576TG[25] XM_047443433.1:c.1075-5576TG[26] XM_047443433.1:c.1075-5576TG[27] XM_047443433.1:c.1075-5576TG[28] XM_047443433.1:c.1075-5576TG[29] XM_047443433.1:c.1075-5576TG[30] XM_047443433.1:c.1075-5576TG[33]
M1AP transcript variant X7 XM_047443434.1:c.1075-3403= XM_047443434.1:c.1075-3444TG[9] XM_047443434.1:c.1075-3444TG[10] XM_047443434.1:c.1075-3444TG[11] XM_047443434.1:c.1075-3444TG[12] XM_047443434.1:c.1075-3444TG[13] XM_047443434.1:c.1075-3444TG[14] XM_047443434.1:c.1075-3444TG[15] XM_047443434.1:c.1075-3444TG[16] XM_047443434.1:c.1075-3444TG[17] XM_047443434.1:c.1075-3444TG[18] XM_047443434.1:c.1075-3444TG[19] XM_047443434.1:c.1075-3444TG[20] XM_047443434.1:c.1075-3444TG[22] XM_047443434.1:c.1075-3444TG[23] XM_047443434.1:c.1075-3444TG[24] XM_047443434.1:c.1075-3444TG[25] XM_047443434.1:c.1075-3444TG[26] XM_047443434.1:c.1075-3444TG[27] XM_047443434.1:c.1075-3444TG[28] XM_047443434.1:c.1075-3444TG[29] XM_047443434.1:c.1075-3444TG[30] XM_047443434.1:c.1075-3444TG[33]
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

87 SubSNP, 41 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41706377 Mar 15, 2016 (147)
2 HGSV ss77835282 Aug 21, 2014 (142)
3 HUMANGENOME_JCVI ss95276797 Mar 15, 2016 (147)
4 PJP ss294990149 Aug 21, 2014 (142)
5 1000GENOMES ss326226025 May 09, 2011 (137)
6 1000GENOMES ss326293166 May 09, 2011 (137)
7 LUNTER ss551093855 Apr 25, 2013 (138)
8 LUNTER ss551143112 Apr 25, 2013 (138)
9 1000GENOMES ss1368343473 Aug 21, 2014 (142)
10 EVA_UK10K_ALSPAC ss1702743158 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1702743159 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1710009763 Jan 10, 2018 (151)
13 EVA_UK10K_ALSPAC ss1710009764 Jan 10, 2018 (151)
14 EVA_UK10K_TWINSUK ss1710009765 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1710009767 Apr 01, 2015 (144)
16 SWEGEN ss2989756286 Nov 08, 2017 (151)
17 MCHAISSO ss3063941958 Nov 08, 2017 (151)
18 MCHAISSO ss3064793137 Nov 08, 2017 (151)
19 MCHAISSO ss3064793138 Nov 08, 2017 (151)
20 MCHAISSO ss3065748216 Nov 08, 2017 (151)
21 MCHAISSO ss3065748217 Nov 08, 2017 (151)
22 MCHAISSO ss3065748218 Nov 08, 2017 (151)
23 URBANLAB ss3647064984 Oct 11, 2018 (152)
24 EVA_DECODE ss3704199187 Jul 13, 2019 (153)
25 EVA_DECODE ss3704199188 Jul 13, 2019 (153)
26 EVA_DECODE ss3704199189 Jul 13, 2019 (153)
27 EVA_DECODE ss3704199190 Jul 13, 2019 (153)
28 EVA_DECODE ss3704199191 Jul 13, 2019 (153)
29 EVA_DECODE ss3704199192 Jul 13, 2019 (153)
30 PACBIO ss3783900637 Jul 13, 2019 (153)
31 PACBIO ss3783900638 Jul 13, 2019 (153)
32 PACBIO ss3789480752 Jul 13, 2019 (153)
33 PACBIO ss3789480753 Jul 13, 2019 (153)
34 PACBIO ss3794353720 Jul 13, 2019 (153)
35 PACBIO ss3794353721 Jul 13, 2019 (153)
36 EVA ss3827056789 Apr 25, 2020 (154)
37 GNOMAD ss4044104382 Apr 26, 2021 (155)
38 GNOMAD ss4044104383 Apr 26, 2021 (155)
39 GNOMAD ss4044104384 Apr 26, 2021 (155)
40 GNOMAD ss4044104385 Apr 26, 2021 (155)
41 GNOMAD ss4044104386 Apr 26, 2021 (155)
42 GNOMAD ss4044104387 Apr 26, 2021 (155)
43 GNOMAD ss4044104388 Apr 26, 2021 (155)
44 GNOMAD ss4044104389 Apr 26, 2021 (155)
45 GNOMAD ss4044104390 Apr 26, 2021 (155)
46 GNOMAD ss4044104391 Apr 26, 2021 (155)
47 GNOMAD ss4044104396 Apr 26, 2021 (155)
48 GNOMAD ss4044104397 Apr 26, 2021 (155)
49 GNOMAD ss4044104398 Apr 26, 2021 (155)
50 GNOMAD ss4044104399 Apr 26, 2021 (155)
51 GNOMAD ss4044104400 Apr 26, 2021 (155)
52 GNOMAD ss4044104401 Apr 26, 2021 (155)
53 GNOMAD ss4044104402 Apr 26, 2021 (155)
54 GNOMAD ss4044104403 Apr 26, 2021 (155)
55 GNOMAD ss4044104404 Apr 26, 2021 (155)
56 GNOMAD ss4044104405 Apr 26, 2021 (155)
57 GNOMAD ss4044104406 Apr 26, 2021 (155)
58 GNOMAD ss4044104407 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5152078314 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss5152078315 Apr 26, 2021 (155)
61 TOMMO_GENOMICS ss5152078316 Apr 26, 2021 (155)
62 TOMMO_GENOMICS ss5152078317 Apr 26, 2021 (155)
63 TOMMO_GENOMICS ss5152078318 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5152078319 Apr 26, 2021 (155)
65 1000G_HIGH_COVERAGE ss5248607130 Oct 12, 2022 (156)
66 1000G_HIGH_COVERAGE ss5248607131 Oct 12, 2022 (156)
67 1000G_HIGH_COVERAGE ss5248607132 Oct 12, 2022 (156)
68 1000G_HIGH_COVERAGE ss5248607133 Oct 12, 2022 (156)
69 1000G_HIGH_COVERAGE ss5248607134 Oct 12, 2022 (156)
70 1000G_HIGH_COVERAGE ss5248607135 Oct 12, 2022 (156)
71 HUGCELL_USP ss5448758257 Oct 12, 2022 (156)
72 HUGCELL_USP ss5448758258 Oct 12, 2022 (156)
73 HUGCELL_USP ss5448758259 Oct 12, 2022 (156)
74 HUGCELL_USP ss5448758260 Oct 12, 2022 (156)
75 HUGCELL_USP ss5448758261 Oct 12, 2022 (156)
76 HUGCELL_USP ss5448758262 Oct 12, 2022 (156)
77 TOMMO_GENOMICS ss5680910431 Oct 12, 2022 (156)
78 TOMMO_GENOMICS ss5680910432 Oct 12, 2022 (156)
79 TOMMO_GENOMICS ss5680910433 Oct 12, 2022 (156)
80 TOMMO_GENOMICS ss5680910434 Oct 12, 2022 (156)
81 TOMMO_GENOMICS ss5680910435 Oct 12, 2022 (156)
82 TOMMO_GENOMICS ss5680910436 Oct 12, 2022 (156)
83 EVA ss5820307399 Oct 12, 2022 (156)
84 EVA ss5820307400 Oct 12, 2022 (156)
85 EVA ss5820307401 Oct 12, 2022 (156)
86 EVA ss5820307402 Oct 12, 2022 (156)
87 EVA ss5980064062 Oct 12, 2022 (156)
88 1000Genomes NC_000002.11 - 74792953 Oct 11, 2018 (152)
89 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 4918886 (NC_000002.11:74792952::CA 441/3854)
Row 4918887 (NC_000002.11:74792952:CACA: 566/3854)

- Oct 11, 2018 (152)
90 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 4918886 (NC_000002.11:74792952::CA 441/3854)
Row 4918887 (NC_000002.11:74792952:CACA: 566/3854)

- Oct 11, 2018 (152)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
107 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
108 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
112 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62793013 (NC_000002.12:74565825::CA 10221/127280)
Row 62793014 (NC_000002.12:74565825::CACA 8004/127320)
Row 62793015 (NC_000002.12:74565825::CACACA 7979/127306)...

- Apr 26, 2021 (155)
113 8.3KJPN

Submission ignored due to conflicting rows:
Row 10047621 (NC_000002.11:74792952::CACACACA 4218/16666)
Row 10047622 (NC_000002.11:74792952:CA: 1944/16666)
Row 10047623 (NC_000002.11:74792952::CACACACACA 457/16666)...

- Apr 26, 2021 (155)
114 8.3KJPN

Submission ignored due to conflicting rows:
Row 10047621 (NC_000002.11:74792952::CACACACA 4218/16666)
Row 10047622 (NC_000002.11:74792952:CA: 1944/16666)
Row 10047623 (NC_000002.11:74792952::CACACACACA 457/16666)...

- Apr 26, 2021 (155)
115 8.3KJPN

Submission ignored due to conflicting rows:
Row 10047621 (NC_000002.11:74792952::CACACACA 4218/16666)
Row 10047622 (NC_000002.11:74792952:CA: 1944/16666)
Row 10047623 (NC_000002.11:74792952::CACACACACA 457/16666)...

- Apr 26, 2021 (155)
116 8.3KJPN

Submission ignored due to conflicting rows:
Row 10047621 (NC_000002.11:74792952::CACACACA 4218/16666)
Row 10047622 (NC_000002.11:74792952:CA: 1944/16666)
Row 10047623 (NC_000002.11:74792952::CACACACACA 457/16666)...

- Apr 26, 2021 (155)
117 8.3KJPN

Submission ignored due to conflicting rows:
Row 10047621 (NC_000002.11:74792952::CACACACA 4218/16666)
Row 10047622 (NC_000002.11:74792952:CA: 1944/16666)
Row 10047623 (NC_000002.11:74792952::CACACACACA 457/16666)...

- Apr 26, 2021 (155)
118 8.3KJPN

Submission ignored due to conflicting rows:
Row 10047621 (NC_000002.11:74792952::CACACACA 4218/16666)
Row 10047622 (NC_000002.11:74792952:CA: 1944/16666)
Row 10047623 (NC_000002.11:74792952::CACACACACA 457/16666)...

- Apr 26, 2021 (155)
119 14KJPN

Submission ignored due to conflicting rows:
Row 14747535 (NC_000002.12:74565825::CA 2031/28228)
Row 14747536 (NC_000002.12:74565825::CACACACA 7160/28228)
Row 14747537 (NC_000002.12:74565825::CACA 4993/28228)...

- Oct 12, 2022 (156)
120 14KJPN

Submission ignored due to conflicting rows:
Row 14747535 (NC_000002.12:74565825::CA 2031/28228)
Row 14747536 (NC_000002.12:74565825::CACACACA 7160/28228)
Row 14747537 (NC_000002.12:74565825::CACA 4993/28228)...

- Oct 12, 2022 (156)
121 14KJPN

Submission ignored due to conflicting rows:
Row 14747535 (NC_000002.12:74565825::CA 2031/28228)
Row 14747536 (NC_000002.12:74565825::CACACACA 7160/28228)
Row 14747537 (NC_000002.12:74565825::CACA 4993/28228)...

- Oct 12, 2022 (156)
122 14KJPN

Submission ignored due to conflicting rows:
Row 14747535 (NC_000002.12:74565825::CA 2031/28228)
Row 14747536 (NC_000002.12:74565825::CACACACA 7160/28228)
Row 14747537 (NC_000002.12:74565825::CACA 4993/28228)...

- Oct 12, 2022 (156)
123 14KJPN

Submission ignored due to conflicting rows:
Row 14747535 (NC_000002.12:74565825::CA 2031/28228)
Row 14747536 (NC_000002.12:74565825::CACACACA 7160/28228)
Row 14747537 (NC_000002.12:74565825::CACA 4993/28228)...

- Oct 12, 2022 (156)
124 14KJPN

Submission ignored due to conflicting rows:
Row 14747535 (NC_000002.12:74565825::CA 2031/28228)
Row 14747536 (NC_000002.12:74565825::CACACACA 7160/28228)
Row 14747537 (NC_000002.12:74565825::CACA 4993/28228)...

- Oct 12, 2022 (156)
125 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 4918885 (NC_000002.11:74792954:CA: 2559/3708)
Row 4918886 (NC_000002.11:74792956::CA 434/3708)
Row 4918887 (NC_000002.11:74792952:CACA: 547/3708)

- Apr 25, 2020 (154)
126 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 4918886 (NC_000002.11:74792952::CA 434/3708)
Row 4918887 (NC_000002.11:74792952:CACA: 547/3708)

- Oct 11, 2018 (152)
127 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 4918886 (NC_000002.11:74792952::CA 434/3708)
Row 4918887 (NC_000002.11:74792952:CACA: 547/3708)

- Oct 11, 2018 (152)
128 ALFA NC_000002.12 - 74565826 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs144456654 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4044104407 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACA:

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA

(self)
ss4044104406 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACA:

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA

(self)
ss4044104405 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACA:

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA

(self)
ss4044104404 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACA:

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA

(self)
8840801, ss1368343473 NC_000002.11:74792952:CACACACACACA…

NC_000002.11:74792952:CACACACACACACACA:

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA

(self)
ss4044104403 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACA:

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA

(self)
ss4044104402 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACA:

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA

(self)
ss4044104401 NC_000002.12:74565825:CACACACACACA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA

(self)
ss4044104400 NC_000002.12:74565825:CACACACACA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA

(self)
ss3704199192, ss4044104399 NC_000002.12:74565825:CACACACA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA

(self)
ss3783900637, ss3789480752, ss3794353720, ss5820307402 NC_000002.11:74792952:CACACA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA

(self)
8840801 NC_000002.11:74792952:CACACACACACA…

NC_000002.11:74792952:CACACACACACACACA:CACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA

(self)
ss3065748216, ss4044104398, ss5248607132, ss5448758258 NC_000002.12:74565825:CACACA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA

(self)
ss1702743158, ss1702743159, ss2989756286, ss5820307400 NC_000002.11:74792952:CACA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

(self)
8840801 NC_000002.11:74792952:CACACACACACA…

NC_000002.11:74792952:CACACACACACACACA:CACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

(self)
ss3065748217, ss4044104397, ss5248607133, ss5448758260 NC_000002.12:74565825:CACA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

(self)
ss3704199191 NC_000002.12:74565829:CACA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA

(self)
ss77835282 NC_000002.9:74704647:CA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss326226025, ss326293166, ss551093855, ss551143112 NC_000002.10:74646460:CA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss294990149 NC_000002.10:74646500:CA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss3783900638, ss3789480753, ss3794353721, ss3827056789, ss5152078315, ss5820307399 NC_000002.11:74792952:CA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss1710009763, ss1710009764 NC_000002.11:74792954:CA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss3064793138, ss4044104396, ss5248607130, ss5448758257, ss5680910434 NC_000002.12:74565825:CA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss3704199190 NC_000002.12:74565831:CA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss3647064984 NC_000002.12:74565834:AC: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss41706377 NT_022184.15:53614878:AC: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss95276797 NT_022184.15:53614879:CA: NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA

(self)
ss5152078319 NC_000002.11:74792952::CA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

(self)
ss1710009765, ss1710009767 NC_000002.11:74792956::CA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104382, ss5448758262, ss5680910431 NC_000002.12:74565825::CA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3704199189 NC_000002.12:74565833::CA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA

(self)
ss5152078318, ss5980064062 NC_000002.11:74792952::CACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104383, ss5248607134, ss5448758259, ss5680910433 NC_000002.12:74565825::CACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3704199188 NC_000002.12:74565833::CACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss5152078317, ss5820307401 NC_000002.11:74792952::CACACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3063941958, ss3064793137, ss3065748218, ss4044104384, ss5248607131, ss5448758261, ss5680910435 NC_000002.12:74565825::CACACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss3704199187 NC_000002.12:74565833::CACACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss5152078314 NC_000002.11:74792952::CACACACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104385, ss5248607135, ss5680910432 NC_000002.12:74565825::CACACACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss5152078316 NC_000002.11:74792952::CACACACACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104386, ss5680910436 NC_000002.12:74565825::CACACACACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104387 NC_000002.12:74565825::CACACACACACA NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104388 NC_000002.12:74565825::CACACACACAC…

NC_000002.12:74565825::CACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104389 NC_000002.12:74565825::CACACACACAC…

NC_000002.12:74565825::CACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104390 NC_000002.12:74565825::CACACACACAC…

NC_000002.12:74565825::CACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
6502715032 NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
ss4044104391 NC_000002.12:74565825::CACACACACAC…

NC_000002.12:74565825::CACACACACACACACACACACACA

NC_000002.12:74565825:CACACACACACA…

NC_000002.12:74565825:CACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs72206117

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d