Name: rs371107246
Published: September 21, 2022
License: Open Access

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.

rs371107246

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:110285916-110285935 (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)₁₁ / del(T)₈ / del(T)₇ / del…
del(T)₁₁ / 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)₈ / dup(T)₁₂ / dup(T)₁₃ / dup(T)₁₄
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.00609 (101/16578, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ATP2A2 : 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	16578	TTTTTTTTTTTTTTTTTTTT=0.98884	TTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00169, TTTTTTTTTTTTTTTTTTTTT=0.00609, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00060, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00133, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00054, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00090	0.988454	0.000608	0.010938	32
European	Sub	13366	TTTTTTTTTTTTTTTTTTTT=0.98616	TTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00209, TTTTTTTTTTTTTTTTTTTTT=0.00756, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00075, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00165, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00067, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00112	0.985654	0.000755	0.013591	31
African	Sub	1954	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	80	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1874	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	86	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	68	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	118	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	554	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	80	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	420	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A

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	16578	(T)₂₀=0.98884	del(T)₁₁=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00169, dupT=0.00609, dupTT=0.00000, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00090, dup(T)₈=0.00133, dup(T)₁₂=0.00060, dup(T)₁₃=0.00054
Allele Frequency Aggregator	European	Sub	13366	(T)₂₀=0.98616	del(T)₁₁=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00209, dupT=0.00756, dupTT=0.00000, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00112, dup(T)₈=0.00165, dup(T)₁₂=0.00075, dup(T)₁₃=0.00067
Allele Frequency Aggregator	African	Sub	1954	(T)₂₀=1.0000	del(T)₁₁=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=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₈=0.0000, dup(T)₁₂=0.0000, dup(T)₁₃=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	554	(T)₂₀=1.000	del(T)₁₁=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)₆=0.000, dup(T)₈=0.000, dup(T)₁₂=0.000, dup(T)₁₃=0.000
Allele Frequency Aggregator	Other	Sub	420	(T)₂₀=1.000	del(T)₁₁=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)₆=0.000, dup(T)₈=0.000, dup(T)₁₂=0.000, dup(T)₁₃=0.000
Allele Frequency Aggregator	Latin American 1	Sub	118	(T)₂₀=1.000	del(T)₁₁=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)₆=0.000, dup(T)₈=0.000, dup(T)₁₂=0.000, dup(T)₁₃=0.000
Allele Frequency Aggregator	Asian	Sub	86	(T)₂₀=1.00	del(T)₁₁=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)₆=0.00, dup(T)₈=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00
Allele Frequency Aggregator	South Asian	Sub	80	(T)₂₀=1.00	del(T)₁₁=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)₆=0.00, dup(T)₈=0.00, dup(T)₁₂=0.00, dup(T)₁₃=0.00

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 12	NC_000012.12:g.110285925_110285935del
GRCh38.p14 chr 12	NC_000012.12:g.110285928_110285935del
GRCh38.p14 chr 12	NC_000012.12:g.110285929_110285935del
GRCh38.p14 chr 12	NC_000012.12:g.110285931_110285935del
GRCh38.p14 chr 12	NC_000012.12:g.110285932_110285935del
GRCh38.p14 chr 12	NC_000012.12:g.110285933_110285935del
GRCh38.p14 chr 12	NC_000012.12:g.110285934_110285935del
GRCh38.p14 chr 12	NC_000012.12:g.110285935del
GRCh38.p14 chr 12	NC_000012.12:g.110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285934_110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285933_110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285932_110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285931_110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285930_110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285928_110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285924_110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285923_110285935dup
GRCh38.p14 chr 12	NC_000012.12:g.110285922_110285935dup
GRCh37.p13 chr 12	NC_000012.11:g.110723730_110723740del
GRCh37.p13 chr 12	NC_000012.11:g.110723733_110723740del
GRCh37.p13 chr 12	NC_000012.11:g.110723734_110723740del
GRCh37.p13 chr 12	NC_000012.11:g.110723736_110723740del
GRCh37.p13 chr 12	NC_000012.11:g.110723737_110723740del
GRCh37.p13 chr 12	NC_000012.11:g.110723738_110723740del
GRCh37.p13 chr 12	NC_000012.11:g.110723739_110723740del
GRCh37.p13 chr 12	NC_000012.11:g.110723740del
GRCh37.p13 chr 12	NC_000012.11:g.110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723739_110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723738_110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723737_110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723736_110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723735_110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723733_110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723729_110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723728_110723740dup
GRCh37.p13 chr 12	NC_000012.11:g.110723727_110723740dup
ATP2A2 RefSeqGene	NG_007097.2:g.9299_9309del
ATP2A2 RefSeqGene	NG_007097.2:g.9302_9309del
ATP2A2 RefSeqGene	NG_007097.2:g.9303_9309del
ATP2A2 RefSeqGene	NG_007097.2:g.9305_9309del
ATP2A2 RefSeqGene	NG_007097.2:g.9306_9309del
ATP2A2 RefSeqGene	NG_007097.2:g.9307_9309del
ATP2A2 RefSeqGene	NG_007097.2:g.9308_9309del
ATP2A2 RefSeqGene	NG_007097.2:g.9309del
ATP2A2 RefSeqGene	NG_007097.2:g.9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9308_9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9307_9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9306_9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9305_9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9304_9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9302_9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9298_9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9297_9309dup
ATP2A2 RefSeqGene	NG_007097.2:g.9296_9309dup

Gene: ATP2A2, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATP2A2 transcript variant a	NM_001681.4:c.219+3130_21… NM_001681.4:c.219+3130_219+3140del	N/A	Intron Variant
ATP2A2 transcript variant b	NM_170665.4:c.219+3130_21… NM_170665.4:c.219+3130_219+3140del	N/A	Intron Variant
ATP2A2 transcript variant X2	XM_005253888.4:c.219+3130… XM_005253888.4:c.219+3130_219+3140del	N/A	Intron Variant
ATP2A2 transcript variant X1	XM_011538402.4:c.219+3130… XM_011538402.4:c.219+3130_219+3140del	N/A	Intron Variant

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

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)₂₀=	del(T)₁₁	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)₈	dup(T)₁₂	dup(T)₁₃	dup(T)₁₄
GRCh38.p14 chr 12	NC_000012.12:g.110285916_110285935=	NC_000012.12:g.110285925_110285935del	NC_000012.12:g.110285928_110285935del	NC_000012.12:g.110285929_110285935del	NC_000012.12:g.110285931_110285935del	NC_000012.12:g.110285932_110285935del	NC_000012.12:g.110285933_110285935del	NC_000012.12:g.110285934_110285935del	NC_000012.12:g.110285935del	NC_000012.12:g.110285935dup	NC_000012.12:g.110285934_110285935dup	NC_000012.12:g.110285933_110285935dup	NC_000012.12:g.110285932_110285935dup	NC_000012.12:g.110285931_110285935dup	NC_000012.12:g.110285930_110285935dup	NC_000012.12:g.110285928_110285935dup	NC_000012.12:g.110285924_110285935dup	NC_000012.12:g.110285923_110285935dup	NC_000012.12:g.110285922_110285935dup
GRCh37.p13 chr 12	NC_000012.11:g.110723721_110723740=	NC_000012.11:g.110723730_110723740del	NC_000012.11:g.110723733_110723740del	NC_000012.11:g.110723734_110723740del	NC_000012.11:g.110723736_110723740del	NC_000012.11:g.110723737_110723740del	NC_000012.11:g.110723738_110723740del	NC_000012.11:g.110723739_110723740del	NC_000012.11:g.110723740del	NC_000012.11:g.110723740dup	NC_000012.11:g.110723739_110723740dup	NC_000012.11:g.110723738_110723740dup	NC_000012.11:g.110723737_110723740dup	NC_000012.11:g.110723736_110723740dup	NC_000012.11:g.110723735_110723740dup	NC_000012.11:g.110723733_110723740dup	NC_000012.11:g.110723729_110723740dup	NC_000012.11:g.110723728_110723740dup	NC_000012.11:g.110723727_110723740dup
ATP2A2 RefSeqGene	NG_007097.2:g.9290_9309=	NG_007097.2:g.9299_9309del	NG_007097.2:g.9302_9309del	NG_007097.2:g.9303_9309del	NG_007097.2:g.9305_9309del	NG_007097.2:g.9306_9309del	NG_007097.2:g.9307_9309del	NG_007097.2:g.9308_9309del	NG_007097.2:g.9309del	NG_007097.2:g.9309dup	NG_007097.2:g.9308_9309dup	NG_007097.2:g.9307_9309dup	NG_007097.2:g.9306_9309dup	NG_007097.2:g.9305_9309dup	NG_007097.2:g.9304_9309dup	NG_007097.2:g.9302_9309dup	NG_007097.2:g.9298_9309dup	NG_007097.2:g.9297_9309dup	NG_007097.2:g.9296_9309dup
ATP2A2 transcript variant a	NM_001681.3:c.219+3121=	NM_001681.3:c.219+3130_219+3140del	NM_001681.3:c.219+3133_219+3140del	NM_001681.3:c.219+3134_219+3140del	NM_001681.3:c.219+3136_219+3140del	NM_001681.3:c.219+3137_219+3140del	NM_001681.3:c.219+3138_219+3140del	NM_001681.3:c.219+3139_219+3140del	NM_001681.3:c.219+3140del	NM_001681.3:c.219+3140dup	NM_001681.3:c.219+3139_219+3140dup	NM_001681.3:c.219+3138_219+3140dup	NM_001681.3:c.219+3137_219+3140dup	NM_001681.3:c.219+3136_219+3140dup	NM_001681.3:c.219+3135_219+3140dup	NM_001681.3:c.219+3133_219+3140dup	NM_001681.3:c.219+3129_219+3140dup	NM_001681.3:c.219+3128_219+3140dup	NM_001681.3:c.219+3127_219+3140dup
ATP2A2 transcript variant a	NM_001681.4:c.219+3121=	NM_001681.4:c.219+3130_219+3140del	NM_001681.4:c.219+3133_219+3140del	NM_001681.4:c.219+3134_219+3140del	NM_001681.4:c.219+3136_219+3140del	NM_001681.4:c.219+3137_219+3140del	NM_001681.4:c.219+3138_219+3140del	NM_001681.4:c.219+3139_219+3140del	NM_001681.4:c.219+3140del	NM_001681.4:c.219+3140dup	NM_001681.4:c.219+3139_219+3140dup	NM_001681.4:c.219+3138_219+3140dup	NM_001681.4:c.219+3137_219+3140dup	NM_001681.4:c.219+3136_219+3140dup	NM_001681.4:c.219+3135_219+3140dup	NM_001681.4:c.219+3133_219+3140dup	NM_001681.4:c.219+3129_219+3140dup	NM_001681.4:c.219+3128_219+3140dup	NM_001681.4:c.219+3127_219+3140dup
ATP2A2 transcript variant b	NM_170665.3:c.219+3121=	NM_170665.3:c.219+3130_219+3140del	NM_170665.3:c.219+3133_219+3140del	NM_170665.3:c.219+3134_219+3140del	NM_170665.3:c.219+3136_219+3140del	NM_170665.3:c.219+3137_219+3140del	NM_170665.3:c.219+3138_219+3140del	NM_170665.3:c.219+3139_219+3140del	NM_170665.3:c.219+3140del	NM_170665.3:c.219+3140dup	NM_170665.3:c.219+3139_219+3140dup	NM_170665.3:c.219+3138_219+3140dup	NM_170665.3:c.219+3137_219+3140dup	NM_170665.3:c.219+3136_219+3140dup	NM_170665.3:c.219+3135_219+3140dup	NM_170665.3:c.219+3133_219+3140dup	NM_170665.3:c.219+3129_219+3140dup	NM_170665.3:c.219+3128_219+3140dup	NM_170665.3:c.219+3127_219+3140dup
ATP2A2 transcript variant b	NM_170665.4:c.219+3121=	NM_170665.4:c.219+3130_219+3140del	NM_170665.4:c.219+3133_219+3140del	NM_170665.4:c.219+3134_219+3140del	NM_170665.4:c.219+3136_219+3140del	NM_170665.4:c.219+3137_219+3140del	NM_170665.4:c.219+3138_219+3140del	NM_170665.4:c.219+3139_219+3140del	NM_170665.4:c.219+3140del	NM_170665.4:c.219+3140dup	NM_170665.4:c.219+3139_219+3140dup	NM_170665.4:c.219+3138_219+3140dup	NM_170665.4:c.219+3137_219+3140dup	NM_170665.4:c.219+3136_219+3140dup	NM_170665.4:c.219+3135_219+3140dup	NM_170665.4:c.219+3133_219+3140dup	NM_170665.4:c.219+3129_219+3140dup	NM_170665.4:c.219+3128_219+3140dup	NM_170665.4:c.219+3127_219+3140dup
ATP2A2 transcript variant X1	XM_005253887.1:c.219+3121=	XM_005253887.1:c.219+3130_219+3140del	XM_005253887.1:c.219+3133_219+3140del	XM_005253887.1:c.219+3134_219+3140del	XM_005253887.1:c.219+3136_219+3140del	XM_005253887.1:c.219+3137_219+3140del	XM_005253887.1:c.219+3138_219+3140del	XM_005253887.1:c.219+3139_219+3140del	XM_005253887.1:c.219+3140del	XM_005253887.1:c.219+3140dup	XM_005253887.1:c.219+3139_219+3140dup	XM_005253887.1:c.219+3138_219+3140dup	XM_005253887.1:c.219+3137_219+3140dup	XM_005253887.1:c.219+3136_219+3140dup	XM_005253887.1:c.219+3135_219+3140dup	XM_005253887.1:c.219+3133_219+3140dup	XM_005253887.1:c.219+3129_219+3140dup	XM_005253887.1:c.219+3128_219+3140dup	XM_005253887.1:c.219+3127_219+3140dup
ATP2A2 transcript variant X3	XM_005253888.1:c.219+3121=	XM_005253888.1:c.219+3130_219+3140del	XM_005253888.1:c.219+3133_219+3140del	XM_005253888.1:c.219+3134_219+3140del	XM_005253888.1:c.219+3136_219+3140del	XM_005253888.1:c.219+3137_219+3140del	XM_005253888.1:c.219+3138_219+3140del	XM_005253888.1:c.219+3139_219+3140del	XM_005253888.1:c.219+3140del	XM_005253888.1:c.219+3140dup	XM_005253888.1:c.219+3139_219+3140dup	XM_005253888.1:c.219+3138_219+3140dup	XM_005253888.1:c.219+3137_219+3140dup	XM_005253888.1:c.219+3136_219+3140dup	XM_005253888.1:c.219+3135_219+3140dup	XM_005253888.1:c.219+3133_219+3140dup	XM_005253888.1:c.219+3129_219+3140dup	XM_005253888.1:c.219+3128_219+3140dup	XM_005253888.1:c.219+3127_219+3140dup
ATP2A2 transcript variant X2	XM_005253888.4:c.219+3121=	XM_005253888.4:c.219+3130_219+3140del	XM_005253888.4:c.219+3133_219+3140del	XM_005253888.4:c.219+3134_219+3140del	XM_005253888.4:c.219+3136_219+3140del	XM_005253888.4:c.219+3137_219+3140del	XM_005253888.4:c.219+3138_219+3140del	XM_005253888.4:c.219+3139_219+3140del	XM_005253888.4:c.219+3140del	XM_005253888.4:c.219+3140dup	XM_005253888.4:c.219+3139_219+3140dup	XM_005253888.4:c.219+3138_219+3140dup	XM_005253888.4:c.219+3137_219+3140dup	XM_005253888.4:c.219+3136_219+3140dup	XM_005253888.4:c.219+3135_219+3140dup	XM_005253888.4:c.219+3133_219+3140dup	XM_005253888.4:c.219+3129_219+3140dup	XM_005253888.4:c.219+3128_219+3140dup	XM_005253888.4:c.219+3127_219+3140dup
ATP2A2 transcript variant X1	XM_011538402.4:c.219+3121=	XM_011538402.4:c.219+3130_219+3140del	XM_011538402.4:c.219+3133_219+3140del	XM_011538402.4:c.219+3134_219+3140del	XM_011538402.4:c.219+3136_219+3140del	XM_011538402.4:c.219+3137_219+3140del	XM_011538402.4:c.219+3138_219+3140del	XM_011538402.4:c.219+3139_219+3140del	XM_011538402.4:c.219+3140del	XM_011538402.4:c.219+3140dup	XM_011538402.4:c.219+3139_219+3140dup	XM_011538402.4:c.219+3138_219+3140dup	XM_011538402.4:c.219+3137_219+3140dup	XM_011538402.4:c.219+3136_219+3140dup	XM_011538402.4:c.219+3135_219+3140dup	XM_011538402.4:c.219+3133_219+3140dup	XM_011538402.4:c.219+3129_219+3140dup	XM_011538402.4:c.219+3128_219+3140dup	XM_011538402.4:c.219+3127_219+3140dup

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#.

36 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSMP	ss664089585	Apr 01, 2015 (144)
2	SSIP	ss947305713	Aug 21, 2014 (142)
3	SWEGEN	ss3010341752	Nov 08, 2017 (151)
4	EVA	ss3833326221	Apr 27, 2020 (154)
5	KOGIC	ss3972717129	Apr 27, 2020 (154)
6	KOGIC	ss3972717130	Apr 27, 2020 (154)
7	KOGIC	ss3972717131	Apr 27, 2020 (154)
8	GNOMAD	ss4258935734	Apr 26, 2021 (155)
9	GNOMAD	ss4258935735	Apr 26, 2021 (155)
10	GNOMAD	ss4258935736	Apr 26, 2021 (155)
11	GNOMAD	ss4258935737	Apr 26, 2021 (155)
12	GNOMAD	ss4258935738	Apr 26, 2021 (155)
13	GNOMAD	ss4258935739	Apr 26, 2021 (155)
14	GNOMAD	ss4258935740	Apr 26, 2021 (155)
15	GNOMAD	ss4258935741	Apr 26, 2021 (155)
16	GNOMAD	ss4258935742	Apr 26, 2021 (155)
17	GNOMAD	ss4258935743	Apr 26, 2021 (155)
18	GNOMAD	ss4258935744	Apr 26, 2021 (155)
19	TOPMED	ss4932623148	Apr 26, 2021 (155)
20	TOPMED	ss4932623149	Apr 26, 2021 (155)
21	TOPMED	ss4932623150	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5208144292	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5208144293	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5208144294	Apr 26, 2021 (155)
25	1000G_HIGH_COVERAGE	ss5292218981	Oct 16, 2022 (156)
26	1000G_HIGH_COVERAGE	ss5292218982	Oct 16, 2022 (156)
27	1000G_HIGH_COVERAGE	ss5292218983	Oct 16, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5292218984	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5486824170	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5486824171	Oct 16, 2022 (156)
31	HUGCELL_USP	ss5486824172	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5486824173	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5758458974	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5758458975	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5758458977	Oct 16, 2022 (156)
36	EVA	ss5850546400	Oct 16, 2022 (156)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 419204710 (NC_000012.12:110285915::T 8753/110524) Row 419204711 (NC_000012.12:110285915::TT 155/110536) Row 419204712 (NC_000012.12:110285915::TTT 4/110546)...	-	Apr 26, 2021 (155)
49	Korean Genome Project Submission ignored due to conflicting rows: Row 29095130 (NC_000012.12:110285917::T 186/1832) Row 29095131 (NC_000012.12:110285916:T: 433/1832) Row 29095132 (NC_000012.12:110285915:TT: 44/1832)	-	Apr 27, 2020 (154)
50	Korean Genome Project Submission ignored due to conflicting rows: Row 29095130 (NC_000012.12:110285917::T 186/1832) Row 29095131 (NC_000012.12:110285916:T: 433/1832) Row 29095132 (NC_000012.12:110285915:TT: 44/1832)	-	Apr 27, 2020 (154)
51	Korean Genome Project Submission ignored due to conflicting rows: Row 29095130 (NC_000012.12:110285917::T 186/1832) Row 29095131 (NC_000012.12:110285916:T: 433/1832) Row 29095132 (NC_000012.12:110285915:TT: 44/1832)	-	Apr 27, 2020 (154)
52	8.3KJPN Submission ignored due to conflicting rows: Row 66113599 (NC_000012.11:110723720:T: 224/16716) Row 66113600 (NC_000012.11:110723720::T 1330/16716) Row 66113601 (NC_000012.11:110723720::TT 5/16716)	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 66113599 (NC_000012.11:110723720:T: 224/16716) Row 66113600 (NC_000012.11:110723720::T 1330/16716) Row 66113601 (NC_000012.11:110723720::TT 5/16716)	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 66113599 (NC_000012.11:110723720:T: 224/16716) Row 66113600 (NC_000012.11:110723720::T 1330/16716) Row 66113601 (NC_000012.11:110723720::TT 5/16716)	-	Apr 26, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 92296078 (NC_000012.12:110285915::T 2311/28236) Row 92296079 (NC_000012.12:110285915:T: 390/28236) Row 92296081 (NC_000012.12:110285915::TT 8/28236)	-	Oct 16, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 92296078 (NC_000012.12:110285915::T 2311/28236) Row 92296079 (NC_000012.12:110285915:T: 390/28236) Row 92296081 (NC_000012.12:110285915::TT 8/28236)	-	Oct 16, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 92296078 (NC_000012.12:110285915::T 2311/28236) Row 92296079 (NC_000012.12:110285915:T: 390/28236) Row 92296081 (NC_000012.12:110285915::TT 8/28236)	-	Oct 16, 2022 (156)
58	TopMed Submission ignored due to conflicting rows: Row 148168805 (NC_000012.12:110285915::TTTTT 1/264690) Row 148168806 (NC_000012.12:110285915:TTTTTTTT: 1/264690) Row 148168807 (NC_000012.12:110285915:TTTTTTTTTTT: 1/264690)	-	Apr 26, 2021 (155)
59	TopMed Submission ignored due to conflicting rows: Row 148168805 (NC_000012.12:110285915::TTTTT 1/264690) Row 148168806 (NC_000012.12:110285915:TTTTTTTT: 1/264690) Row 148168807 (NC_000012.12:110285915:TTTTTTTTTTT: 1/264690)	-	Apr 26, 2021 (155)
60	TopMed Submission ignored due to conflicting rows: Row 148168805 (NC_000012.12:110285915::TTTTT 1/264690) Row 148168806 (NC_000012.12:110285915:TTTTTTTT: 1/264690) Row 148168807 (NC_000012.12:110285915:TTTTTTTTTTT: 1/264690)	-	Apr 26, 2021 (155)
61	ALFA	NC_000012.12 - 110285916	Apr 26, 2021 (155)

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
ss4932623150	NC_000012.12:110285915:TTTTTTTTTTT:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4258935744, ss4932623149	NC_000012.12:110285915:TTTTTTTT:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4258935743	NC_000012.12:110285915:TTTT:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4258935742	NC_000012.12:110285915:TTT:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3972717131, ss4258935741, ss5292218984, ss5486824171	NC_000012.12:110285915:TT:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3010341752, ss5208144292	NC_000012.11:110723720:T:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5292218982, ss5486824170, ss5758458975, ss5850546400	NC_000012.12:110285915:T:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3972717130	NC_000012.12:110285916:T:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss664089585, ss3833326221, ss5208144293	NC_000012.11:110723720::T	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss947305713	NC_000012.11:110723721::T	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4258935734, ss5292218981, ss5486824172, ss5758458974	NC_000012.12:110285915::T	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3972717129	NC_000012.12:110285917::T	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5208144294	NC_000012.11:110723720::TT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258935735, ss5292218983, ss5486824173, ss5758458977	NC_000012.12:110285915::TT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258935736	NC_000012.12:110285915::TTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258935737	NC_000012.12:110285915::TTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258935738, ss4932623148	NC_000012.12:110285915::TTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258935739	NC_000012.12:110285915::TTTTTTTTTT… NC_000012.12:110285915::TTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12613314316	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4258935740	NC_000012.12:110285915::TTTTTTTTTT… NC_000012.12:110285915::TTTTTTTTTTTTTT	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3181545415	NC_000012.12:110285915:TTTTT:	NC_000012.12:110285915:TTTTTTTTTTT… NC_000012.12:110285915:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

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

No publications for rs371107246

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs371107246