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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.

rs550529109

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:47335838-47335859 (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(T)14 / del(T)13 / del(T)12 / d…

del(T)14 / del(T)13 / del(T)12 / del(T)11 / del(T)10 / del(T)9 / del(T)8 / del(T)7 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)9 / dup(T)10 / dup(T)11 / dup(T)12 / dup(T)13 / dup(T)14 / dup(T)18 / ins(T)31

Variation Type
Indel Insertion and Deletion
Frequency
delTT=0.0680 (612/8994, ALFA)
delTT=0.4868 (2438/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EPCAM-DT : Intron Variant
BCYRN1 : 500B Downstream 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 8994 TTTTTTTTTTTTTTTTTTTTTT=0.9092 TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0680, TTTTTTTTTTTTTTTTTTTTT=0.0071, TTTTTTTTTTTTTTTTTTTTTTT=0.0024, TTTTTTTTTTTTTTTTTTTTTTTT=0.0039, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0012, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0081, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.872236 0.007912 0.119851 7
European Sub 8238 TTTTTTTTTTTTTTTTTTTTTT=0.9009 TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0743, TTTTTTTTTTTTTTTTTTTTT=0.0076, TTTTTTTTTTTTTTTTTTTTTTT=0.0027, TTTTTTTTTTTTTTTTTTTTTTTT=0.0042, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0013, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0089, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.859949 0.008673 0.131378 5
African Sub 406 TTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 4 TTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
African American Sub 402 TTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 6 TTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 4 TTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 TTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 40 TTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 110 TTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 54 TTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 140 TTTTTTTTTTTTTTTTTTTTTT=0.993 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.007, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A


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
Allele Frequency Aggregator Total Global 8994 (T)22=0.9092 del(T)14=0.0000, del(T)13=0.0000, del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0680, delT=0.0071, dupT=0.0024, dupTT=0.0039, dupTTT=0.0012, dup(T)4=0.0081, dup(T)5=0.0000, dup(T)8=0.0000
Allele Frequency Aggregator European Sub 8238 (T)22=0.9009 del(T)14=0.0000, del(T)13=0.0000, del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0743, delT=0.0076, dupT=0.0027, dupTT=0.0042, dupTTT=0.0013, dup(T)4=0.0089, dup(T)5=0.0000, dup(T)8=0.0000
Allele Frequency Aggregator African Sub 406 (T)22=1.000 del(T)14=0.000, del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)8=0.000
Allele Frequency Aggregator Other Sub 140 (T)22=0.993 del(T)14=0.000, del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.007, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)8=0.000
Allele Frequency Aggregator Latin American 2 Sub 110 (T)22=1.000 del(T)14=0.000, del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)8=0.000
Allele Frequency Aggregator South Asian Sub 54 (T)22=1.00 del(T)14=0.00, del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)8=0.00
Allele Frequency Aggregator Latin American 1 Sub 40 (T)22=1.00 del(T)14=0.00, del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)8=0.00
Allele Frequency Aggregator Asian Sub 6 (T)22=1.0 del(T)14=0.0, del(T)13=0.0, del(T)12=0.0, del(T)11=0.0, del(T)10=0.0, del(T)9=0.0, del(T)8=0.0, del(T)7=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0, dup(T)5=0.0, dup(T)8=0.0
1000Genomes Global Study-wide 5008 (T)22=0.5132 delTT=0.4868
1000Genomes African Sub 1322 (T)22=0.4107 delTT=0.5893
1000Genomes East Asian Sub 1008 (T)22=0.3889 delTT=0.6111
1000Genomes Europe Sub 1006 (T)22=0.5746 delTT=0.4254
1000Genomes South Asian Sub 978 (T)22=0.681 delTT=0.319
1000Genomes American Sub 694 (T)22=0.563 delTT=0.437
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.47335846_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335847_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335848_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335849_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335850_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335851_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335852_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335853_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335855_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335856_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335857_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335858_47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335859del
GRCh38.p14 chr 2 NC_000002.12:g.47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335858_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335857_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335856_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335855_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335854_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335853_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335852_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335851_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335850_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335849_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335848_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335847_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335846_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335842_47335859dup
GRCh38.p14 chr 2 NC_000002.12:g.47335859_47335860insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2 NC_000002.11:g.47562985_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562986_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562987_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562988_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562989_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562990_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562991_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562992_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562994_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562995_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562996_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562997_47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562998del
GRCh37.p13 chr 2 NC_000002.11:g.47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562997_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562996_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562995_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562994_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562993_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562992_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562991_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562990_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562989_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562988_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562987_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562986_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562985_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562981_47562998dup
GRCh37.p13 chr 2 NC_000002.11:g.47562998_47562999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene: EPCAM-DT, EPCAM divergent transcript (minus strand)
Molecule type Change Amino acid[Codon] SO Term
EPCAM-DT transcript variant 1 NR_110207.1:n. N/A Intron Variant
EPCAM-DT transcript variant 2 NR_110208.1:n. N/A Intron Variant
Gene: BCYRN1, brain cytoplasmic RNA 1 (plus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
BCYRN1 transcript NR_001568.1:n. N/A Downstream Transcript 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 (T)22= del(T)14 del(T)13 del(T)12 del(T)11 del(T)10 del(T)9 del(T)8 del(T)7 del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)6 dup(T)7 dup(T)8 dup(T)9 dup(T)10 dup(T)11 dup(T)12 dup(T)13 dup(T)14 dup(T)18 ins(T)31
GRCh38.p14 chr 2 NC_000002.12:g.47335838_47335859= NC_000002.12:g.47335846_47335859del NC_000002.12:g.47335847_47335859del NC_000002.12:g.47335848_47335859del NC_000002.12:g.47335849_47335859del NC_000002.12:g.47335850_47335859del NC_000002.12:g.47335851_47335859del NC_000002.12:g.47335852_47335859del NC_000002.12:g.47335853_47335859del NC_000002.12:g.47335855_47335859del NC_000002.12:g.47335856_47335859del NC_000002.12:g.47335857_47335859del NC_000002.12:g.47335858_47335859del NC_000002.12:g.47335859del NC_000002.12:g.47335859dup NC_000002.12:g.47335858_47335859dup NC_000002.12:g.47335857_47335859dup NC_000002.12:g.47335856_47335859dup NC_000002.12:g.47335855_47335859dup NC_000002.12:g.47335854_47335859dup NC_000002.12:g.47335853_47335859dup NC_000002.12:g.47335852_47335859dup NC_000002.12:g.47335851_47335859dup NC_000002.12:g.47335850_47335859dup NC_000002.12:g.47335849_47335859dup NC_000002.12:g.47335848_47335859dup NC_000002.12:g.47335847_47335859dup NC_000002.12:g.47335846_47335859dup NC_000002.12:g.47335842_47335859dup NC_000002.12:g.47335859_47335860insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2 NC_000002.11:g.47562977_47562998= NC_000002.11:g.47562985_47562998del NC_000002.11:g.47562986_47562998del NC_000002.11:g.47562987_47562998del NC_000002.11:g.47562988_47562998del NC_000002.11:g.47562989_47562998del NC_000002.11:g.47562990_47562998del NC_000002.11:g.47562991_47562998del NC_000002.11:g.47562992_47562998del NC_000002.11:g.47562994_47562998del NC_000002.11:g.47562995_47562998del NC_000002.11:g.47562996_47562998del NC_000002.11:g.47562997_47562998del NC_000002.11:g.47562998del NC_000002.11:g.47562998dup NC_000002.11:g.47562997_47562998dup NC_000002.11:g.47562996_47562998dup NC_000002.11:g.47562995_47562998dup NC_000002.11:g.47562994_47562998dup NC_000002.11:g.47562993_47562998dup NC_000002.11:g.47562992_47562998dup NC_000002.11:g.47562991_47562998dup NC_000002.11:g.47562990_47562998dup NC_000002.11:g.47562989_47562998dup NC_000002.11:g.47562988_47562998dup NC_000002.11:g.47562987_47562998dup NC_000002.11:g.47562986_47562998dup NC_000002.11:g.47562985_47562998dup NC_000002.11:g.47562981_47562998dup NC_000002.11:g.47562998_47562999insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

50 SubSNP, 38 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1368202163 Aug 21, 2014 (142)
2 SWEGEN ss2989431817 Nov 08, 2017 (151)
3 KHV_HUMAN_GENOMES ss3801077174 Jul 13, 2019 (153)
4 GNOMAD ss4040417482 Apr 26, 2021 (155)
5 GNOMAD ss4040417483 Apr 26, 2021 (155)
6 GNOMAD ss4040417484 Apr 26, 2021 (155)
7 GNOMAD ss4040417485 Apr 26, 2021 (155)
8 GNOMAD ss4040417486 Apr 26, 2021 (155)
9 GNOMAD ss4040417487 Apr 26, 2021 (155)
10 GNOMAD ss4040417488 Apr 26, 2021 (155)
11 GNOMAD ss4040417489 Apr 26, 2021 (155)
12 GNOMAD ss4040417490 Apr 26, 2021 (155)
13 GNOMAD ss4040417491 Apr 26, 2021 (155)
14 GNOMAD ss4040417492 Apr 26, 2021 (155)
15 GNOMAD ss4040417493 Apr 26, 2021 (155)
16 GNOMAD ss4040417494 Apr 26, 2021 (155)
17 GNOMAD ss4040417495 Apr 26, 2021 (155)
18 GNOMAD ss4040417496 Apr 26, 2021 (155)
19 GNOMAD ss4040417497 Apr 26, 2021 (155)
20 GNOMAD ss4040417498 Apr 26, 2021 (155)
21 GNOMAD ss4040417499 Apr 26, 2021 (155)
22 GNOMAD ss4040417500 Apr 26, 2021 (155)
23 GNOMAD ss4040417501 Apr 26, 2021 (155)
24 GNOMAD ss4040417502 Apr 26, 2021 (155)
25 GNOMAD ss4040417503 Apr 26, 2021 (155)
26 GNOMAD ss4040417504 Apr 26, 2021 (155)
27 GNOMAD ss4040417505 Apr 26, 2021 (155)
28 GNOMAD ss4040417506 Apr 26, 2021 (155)
29 GNOMAD ss4040417507 Apr 26, 2021 (155)
30 TOMMO_GENOMICS ss5151146826 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5151146827 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5151146828 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5151146829 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5151146830 Apr 26, 2021 (155)
35 1000G_HIGH_COVERAGE ss5247897552 Oct 12, 2022 (156)
36 1000G_HIGH_COVERAGE ss5247897553 Oct 12, 2022 (156)
37 1000G_HIGH_COVERAGE ss5247897554 Oct 12, 2022 (156)
38 1000G_HIGH_COVERAGE ss5247897555 Oct 12, 2022 (156)
39 HUGCELL_USP ss5448117120 Oct 12, 2022 (156)
40 HUGCELL_USP ss5448117121 Oct 12, 2022 (156)
41 HUGCELL_USP ss5448117122 Oct 12, 2022 (156)
42 HUGCELL_USP ss5448117123 Oct 12, 2022 (156)
43 HUGCELL_USP ss5448117124 Oct 12, 2022 (156)
44 HUGCELL_USP ss5448117125 Oct 12, 2022 (156)
45 SANFORD_IMAGENETICS ss5628650202 Oct 12, 2022 (156)
46 TOMMO_GENOMICS ss5679709092 Oct 12, 2022 (156)
47 TOMMO_GENOMICS ss5679709093 Oct 12, 2022 (156)
48 TOMMO_GENOMICS ss5679709094 Oct 12, 2022 (156)
49 TOMMO_GENOMICS ss5679709095 Oct 12, 2022 (156)
50 TOMMO_GENOMICS ss5679709096 Oct 12, 2022 (156)
51 1000Genomes NC_000002.11 - 47562977 Oct 11, 2018 (152)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

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

Submission ignored due to conflicting rows:
Row 56677382 (NC_000002.12:47335837::T 2387/87472)
Row 56677383 (NC_000002.12:47335837::TT 169/87436)
Row 56677384 (NC_000002.12:47335837::TTT 112/87484)...

- Apr 26, 2021 (155)
78 8.3KJPN

Submission ignored due to conflicting rows:
Row 9116133 (NC_000002.11:47562976:TT: 6316/16056)
Row 9116134 (NC_000002.11:47562976:T: 816/16056)
Row 9116135 (NC_000002.11:47562976:TTT: 14/16056)...

- Apr 26, 2021 (155)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 9116133 (NC_000002.11:47562976:TT: 6316/16056)
Row 9116134 (NC_000002.11:47562976:T: 816/16056)
Row 9116135 (NC_000002.11:47562976:TTT: 14/16056)...

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 9116133 (NC_000002.11:47562976:TT: 6316/16056)
Row 9116134 (NC_000002.11:47562976:T: 816/16056)
Row 9116135 (NC_000002.11:47562976:TTT: 14/16056)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 9116133 (NC_000002.11:47562976:TT: 6316/16056)
Row 9116134 (NC_000002.11:47562976:T: 816/16056)
Row 9116135 (NC_000002.11:47562976:TTT: 14/16056)...

- Apr 26, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 9116133 (NC_000002.11:47562976:TT: 6316/16056)
Row 9116134 (NC_000002.11:47562976:T: 816/16056)
Row 9116135 (NC_000002.11:47562976:TTT: 14/16056)...

- Apr 26, 2021 (155)
83 14KJPN

Submission ignored due to conflicting rows:
Row 13546196 (NC_000002.12:47335837:TT: 10581/25808)
Row 13546197 (NC_000002.12:47335837:T: 1341/25808)
Row 13546198 (NC_000002.12:47335837:TTT: 19/25808)...

- Oct 12, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 13546196 (NC_000002.12:47335837:TT: 10581/25808)
Row 13546197 (NC_000002.12:47335837:T: 1341/25808)
Row 13546198 (NC_000002.12:47335837:TTT: 19/25808)...

- Oct 12, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 13546196 (NC_000002.12:47335837:TT: 10581/25808)
Row 13546197 (NC_000002.12:47335837:T: 1341/25808)
Row 13546198 (NC_000002.12:47335837:TTT: 19/25808)...

- Oct 12, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 13546196 (NC_000002.12:47335837:TT: 10581/25808)
Row 13546197 (NC_000002.12:47335837:T: 1341/25808)
Row 13546198 (NC_000002.12:47335837:TTT: 19/25808)...

- Oct 12, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 13546196 (NC_000002.12:47335837:TT: 10581/25808)
Row 13546197 (NC_000002.12:47335837:T: 1341/25808)
Row 13546198 (NC_000002.12:47335837:TTT: 19/25808)...

- Oct 12, 2022 (156)
88 ALFA NC_000002.12 - 47335838 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4040417507 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTT:

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
ss4040417506 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTT:

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
ss4040417505 NC_000002.12:47335837:TTTTTTTTTTTT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4040417504 NC_000002.12:47335837:TTTTTTTTT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4040417503 NC_000002.12:47335837:TTTTTTTT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4040417502 NC_000002.12:47335837:TTTTTTT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4040417501 NC_000002.12:47335837:TTTTT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4040417500, ss5448117125 NC_000002.12:47335837:TTTT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss5151146828 NC_000002.11:47562976:TTT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4040417499, ss5448117121, ss5679709094 NC_000002.12:47335837:TTT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
7987369, ss1368202163, ss2989431817, ss5151146826, ss5628650202 NC_000002.11:47562976:TT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3801077174, ss4040417498, ss5247897554, ss5448117122, ss5679709092 NC_000002.12:47335837:TT: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss5151146827 NC_000002.11:47562976:T: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417497, ss5247897552, ss5448117123, ss5679709093 NC_000002.12:47335837:T: NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5151146829 NC_000002.11:47562976::T NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417482, ss5247897553, ss5448117124, ss5679709096 NC_000002.12:47335837::T NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417483, ss5448117120, ss5679709095 NC_000002.12:47335837::TT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5151146830 NC_000002.11:47562976::TTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417484 NC_000002.12:47335837::TTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417485 NC_000002.12:47335837::TTTTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417486 NC_000002.12:47335837::TTTTTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417487 NC_000002.12:47335837::TTTTTTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417488, ss5247897555 NC_000002.12:47335837::TTTTTTTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
2685314356 NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417489 NC_000002.12:47335837::TTTTTTTTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417490 NC_000002.12:47335837::TTTTTTTTTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417491 NC_000002.12:47335837::TTTTTTTTTTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417492 NC_000002.12:47335837::TTTTTTTTTTTT NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417493 NC_000002.12:47335837::TTTTTTTTTTT…

NC_000002.12:47335837::TTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417494 NC_000002.12:47335837::TTTTTTTTTTT…

NC_000002.12:47335837::TTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417495 NC_000002.12:47335837::TTTTTTTTTTT…

NC_000002.12:47335837::TTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4040417496 NC_000002.12:47335837::TTTTTTTTTTT…

NC_000002.12:47335837::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:47335837:TTTTTTTTTTTT…

NC_000002.12:47335837:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(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 rs550529109

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