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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.

rs71399321

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:25756466-25756475 (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(A)8 / delAA / delA / dupA / du…

del(A)8 / delAA / delA / dupA / dupAAA / ins(A)12 / ins(A)13 / ins(A)14 / ins(A)15 / ins(A)16 / ins(A)17 / ins(A)19 / ins(A)20 / ins(A)26 / ins(A)27 / ins(A)28 / ins(A)32 / ins(A)4C(A)32

Variation Type
Indel Insertion and Deletion
Frequency
del(A)8=0.000004 (1/264690, TOPMED)
del(A)8=0.0000 (0/5824, ALFA)
delAA=0.0000 (0/5824, ALFA) (+ 6 more)
delA=0.0000 (0/5824, ALFA)
dupA=0.0000 (0/5824, ALFA)
delA=0.2524 (1264/5008, 1000G)
delA=0.0617 (113/1830, Korea1K)
delA=0.347 (346/998, GoNL)
delA=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ASXL2 : 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 5824 AAAAAAAAAA=1.0000 AA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 3786 AAAAAAAAAA=1.0000 AA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1214 AAAAAAAAAA=1.0000 AA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 48 AAAAAAAAAA=1.00 AA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1166 AAAAAAAAAA=1.0000 AA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 90 AAAAAAAAAA=1.00 AA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 70 AAAAAAAAAA=1.00 AA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 20 AAAAAAAAAA=1.00 AA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 62 AAAAAAAAAA=1.00 AA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 418 AAAAAAAAAA=1.000 AA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 46 AAAAAAAAAA=1.00 AA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 208 AAAAAAAAAA=1.000 AA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAAA=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
TopMed Global Study-wide 264690 (A)10=0.999996 del(A)8=0.000004
Allele Frequency Aggregator Total Global 5824 (A)10=1.0000 del(A)8=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator European Sub 3786 (A)10=1.0000 del(A)8=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator African Sub 1214 (A)10=1.0000 del(A)8=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 418 (A)10=1.000 del(A)8=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator Other Sub 208 (A)10=1.000 del(A)8=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator Asian Sub 90 (A)10=1.00 del(A)8=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator Latin American 1 Sub 62 (A)10=1.00 del(A)8=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator South Asian Sub 46 (A)10=1.00 del(A)8=0.00, delAA=0.00, delA=0.00, dupA=0.00
1000Genomes Global Study-wide 5008 (A)10=0.7476 delA=0.2524
1000Genomes African Sub 1322 (A)10=0.6430 delA=0.3570
1000Genomes East Asian Sub 1008 (A)10=0.9058 delA=0.0942
1000Genomes Europe Sub 1006 (A)10=0.7117 delA=0.2883
1000Genomes South Asian Sub 978 (A)10=0.764 delA=0.236
1000Genomes American Sub 694 (A)10=0.746 delA=0.254
Korean Genome Project KOREAN Study-wide 1830 (A)10=0.9383 delA=0.0617
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 (A)10=0.653 delA=0.347
The Danish reference pan genome Danish Study-wide 40 (A)10=0.72 delA=0.28
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.25756468_25756475del
GRCh38.p14 chr 2 NC_000002.12:g.25756474_25756475del
GRCh38.p14 chr 2 NC_000002.12:g.25756475del
GRCh38.p14 chr 2 NC_000002.12:g.25756475dup
GRCh38.p14 chr 2 NC_000002.12:g.25756473_25756475dup
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25756466_25756475A[14]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 2 NC_000002.11:g.25979337_25979344del
GRCh37.p13 chr 2 NC_000002.11:g.25979343_25979344del
GRCh37.p13 chr 2 NC_000002.11:g.25979344del
GRCh37.p13 chr 2 NC_000002.11:g.25979344dup
GRCh37.p13 chr 2 NC_000002.11:g.25979342_25979344dup
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25979335_25979344A[14]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127044_127051del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127050_127051del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127049_127051dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127042_127051T[32]GTTTTTTTTTTTTTT[1]
Gene: ASXL2, ASXL transcriptional regulator 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ASXL2 transcript variant 2 NM_001369346.1:c.766-359_…

NM_001369346.1:c.766-359_766-352del

N/A Intron Variant
ASXL2 transcript variant 3 NM_001369347.1:c.160-359_…

NM_001369347.1:c.160-359_160-352del

N/A Intron Variant
ASXL2 transcript variant 1 NM_018263.6:c.940-359_940…

NM_018263.6:c.940-359_940-352del

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 (A)10= del(A)8 delAA delA dupA dupAAA ins(A)12 ins(A)13 ins(A)14 ins(A)15 ins(A)16 ins(A)17 ins(A)19 ins(A)20 ins(A)26 ins(A)27 ins(A)28 ins(A)32 ins(A)4C(A)32
GRCh38.p14 chr 2 NC_000002.12:g.25756466_25756475= NC_000002.12:g.25756468_25756475del NC_000002.12:g.25756474_25756475del NC_000002.12:g.25756475del NC_000002.12:g.25756475dup NC_000002.12:g.25756473_25756475dup NC_000002.12:g.25756475_25756476insAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25756475_25756476insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25756466_25756475A[14]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 2 NC_000002.11:g.25979335_25979344= NC_000002.11:g.25979337_25979344del NC_000002.11:g.25979343_25979344del NC_000002.11:g.25979344del NC_000002.11:g.25979344dup NC_000002.11:g.25979342_25979344dup NC_000002.11:g.25979344_25979345insAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25979344_25979345insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25979335_25979344A[14]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.127042_127051= NG_052995.1:g.127044_127051del NG_052995.1:g.127050_127051del NG_052995.1:g.127051del NG_052995.1:g.127051dup NG_052995.1:g.127049_127051dup NG_052995.1:g.127051_127052insTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_052995.1:g.127051_127052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_052995.1:g.127042_127051T[32]GTTTTTTTTTTTTTT[1]
ASXL2 transcript variant 2 NM_001369346.1:c.766-352= NM_001369346.1:c.766-359_766-352del NM_001369346.1:c.766-353_766-352del NM_001369346.1:c.766-352del NM_001369346.1:c.766-352dup NM_001369346.1:c.766-354_766-352dup NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.766-352_766-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT
ASXL2 transcript variant 3 NM_001369347.1:c.160-352= NM_001369347.1:c.160-359_160-352del NM_001369347.1:c.160-353_160-352del NM_001369347.1:c.160-352del NM_001369347.1:c.160-352dup NM_001369347.1:c.160-354_160-352dup NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.160-352_160-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT
ASXL2 transcript NM_018263.4:c.940-352= NM_018263.4:c.940-359_940-352del NM_018263.4:c.940-353_940-352del NM_018263.4:c.940-352del NM_018263.4:c.940-352dup NM_018263.4:c.940-354_940-352dup NM_018263.4:c.940-352_940-351insTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.4:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT
ASXL2 transcript variant 1 NM_018263.6:c.940-352= NM_018263.6:c.940-359_940-352del NM_018263.6:c.940-353_940-352del NM_018263.6:c.940-352del NM_018263.6:c.940-352dup NM_018263.6:c.940-354_940-352dup NM_018263.6:c.940-352_940-351insTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.6:c.940-352_940-351insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT
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, 31 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss96720535 Feb 13, 2009 (130)
2 PJP ss294976512 May 09, 2011 (134)
3 1000GENOMES ss326188474 May 09, 2011 (137)
4 LUNTER ss551061440 Apr 25, 2013 (138)
5 SSMP ss663299119 Apr 01, 2015 (144)
6 BILGI_BIOE ss666141712 Apr 25, 2013 (138)
7 EVA-GONL ss976604137 Aug 21, 2014 (142)
8 1000GENOMES ss1368146341 Aug 21, 2014 (142)
9 DDI ss1536281537 Apr 01, 2015 (144)
10 EVA_GENOME_DK ss1575370853 Apr 01, 2015 (144)
11 BIOINF_KMB_FNS_UNIBA ss3645541287 Oct 11, 2018 (152)
12 URBANLAB ss3646988806 Oct 11, 2018 (152)
13 EVA_DECODE ss3703467270 Jul 12, 2019 (153)
14 EVA_DECODE ss3703467271 Jul 12, 2019 (153)
15 EVA_DECODE ss3703467272 Jul 12, 2019 (153)
16 ACPOP ss3728248255 Jul 12, 2019 (153)
17 ACPOP ss3728248256 Jul 12, 2019 (153)
18 KHV_HUMAN_GENOMES ss3800872465 Jul 12, 2019 (153)
19 EVA ss3826875232 Apr 25, 2020 (154)
20 KOGIC ss3947328770 Apr 25, 2020 (154)
21 GNOMAD ss4037429121 Apr 27, 2021 (155)
22 GNOMAD ss4037429122 Apr 27, 2021 (155)
23 GNOMAD ss4037429123 Apr 27, 2021 (155)
24 GNOMAD ss4037429124 Apr 27, 2021 (155)
25 GNOMAD ss4037429125 Apr 27, 2021 (155)
26 GNOMAD ss4037429126 Apr 27, 2021 (155)
27 GNOMAD ss4037429127 Apr 27, 2021 (155)
28 GNOMAD ss4037429128 Apr 27, 2021 (155)
29 GNOMAD ss4037429129 Apr 27, 2021 (155)
30 GNOMAD ss4037429130 Apr 27, 2021 (155)
31 GNOMAD ss4037429131 Apr 27, 2021 (155)
32 GNOMAD ss4037429132 Apr 27, 2021 (155)
33 GNOMAD ss4037429133 Apr 27, 2021 (155)
34 GNOMAD ss4037429134 Apr 27, 2021 (155)
35 GNOMAD ss4037429135 Apr 27, 2021 (155)
36 GNOMAD ss4037429148 Apr 27, 2021 (155)
37 GNOMAD ss4037429149 Apr 27, 2021 (155)
38 TOPMED ss4497969655 Apr 27, 2021 (155)
39 TOMMO_GENOMICS ss5150365184 Apr 27, 2021 (155)
40 TOMMO_GENOMICS ss5150365185 Apr 27, 2021 (155)
41 TOMMO_GENOMICS ss5150365186 Apr 27, 2021 (155)
42 1000G_HIGH_COVERAGE ss5247297860 Oct 17, 2022 (156)
43 HUGCELL_USP ss5447571346 Oct 17, 2022 (156)
44 HUGCELL_USP ss5447571348 Oct 17, 2022 (156)
45 EVA ss5506329930 Oct 17, 2022 (156)
46 TOMMO_GENOMICS ss5678698961 Oct 17, 2022 (156)
47 TOMMO_GENOMICS ss5678698962 Oct 17, 2022 (156)
48 TOMMO_GENOMICS ss5678698963 Oct 17, 2022 (156)
49 EVA ss5819805344 Oct 17, 2022 (156)
50 EVA ss5929472994 Oct 17, 2022 (156)
51 1000Genomes NC_000002.11 - 25979335 Oct 11, 2018 (152)
52 The Danish reference pan genome NC_000002.11 - 25979335 Apr 25, 2020 (154)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51629284 (NC_000002.12:25756465::A 60/84488)
Row 51629285 (NC_000002.12:25756465::AAA 3/84488)
Row 51629286 (NC_000002.12:25756465::AAAAAAAAAAAA 13/84484)...

- Apr 27, 2021 (155)
70 Genome of the Netherlands Release 5 NC_000002.11 - 25979335 Apr 25, 2020 (154)
71 Korean Genome Project NC_000002.12 - 25756466 Apr 25, 2020 (154)
72 Northern Sweden

Submission ignored due to conflicting rows:
Row 1533120 (NC_000002.11:25979334::AAAAAAAAAAAAA 3/528)
Row 1533121 (NC_000002.11:25979334:A: 91/528)

- Jul 12, 2019 (153)
73 Northern Sweden

Submission ignored due to conflicting rows:
Row 1533120 (NC_000002.11:25979334::AAAAAAAAAAAAA 3/528)
Row 1533121 (NC_000002.11:25979334:A: 91/528)

- Jul 12, 2019 (153)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 8334491 (NC_000002.11:25979334:A: 714/16756)
Row 8334492 (NC_000002.11:25979334::AAAAAAAAAAAAAAAA 6/16756)
Row 8334493 (NC_000002.11:25979334::AAAAAAAAAAAAAA 10/16756)

- Apr 27, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 8334491 (NC_000002.11:25979334:A: 714/16756)
Row 8334492 (NC_000002.11:25979334::AAAAAAAAAAAAAAAA 6/16756)
Row 8334493 (NC_000002.11:25979334::AAAAAAAAAAAAAA 10/16756)

- Apr 27, 2021 (155)
76 8.3KJPN

Submission ignored due to conflicting rows:
Row 8334491 (NC_000002.11:25979334:A: 714/16756)
Row 8334492 (NC_000002.11:25979334::AAAAAAAAAAAAAAAA 6/16756)
Row 8334493 (NC_000002.11:25979334::AAAAAAAAAAAAAA 10/16756)

- Apr 27, 2021 (155)
77 14KJPN

Submission ignored due to conflicting rows:
Row 12536065 (NC_000002.12:25756465:A: 921/26754)
Row 12536066 (NC_000002.12:25756465::A 3/26754)
Row 12536067 (NC_000002.12:25756465::AAAAAAAAAAAAAAAA 14/26754)

- Oct 17, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 12536065 (NC_000002.12:25756465:A: 921/26754)
Row 12536066 (NC_000002.12:25756465::A 3/26754)
Row 12536067 (NC_000002.12:25756465::AAAAAAAAAAAAAAAA 14/26754)

- Oct 17, 2022 (156)
79 14KJPN

Submission ignored due to conflicting rows:
Row 12536065 (NC_000002.12:25756465:A: 921/26754)
Row 12536066 (NC_000002.12:25756465::A 3/26754)
Row 12536067 (NC_000002.12:25756465::AAAAAAAAAAAAAAAA 14/26754)

- Oct 17, 2022 (156)
80 TopMed NC_000002.12 - 25756466 Apr 27, 2021 (155)
81 ALFA NC_000002.12 - 25756466 Apr 27, 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)
rs138965975 May 04, 2012 (137)
rs368855886 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
301792534, ss4497969655 NC_000002.12:25756465:AAAAAAAA: NC_000002.12:25756465:AAAAAAAAAA:AA (self)
8578992906 NC_000002.12:25756465:AAAAAAAAAA:AA NC_000002.12:25756465:AAAAAAAAAA:AA (self)
ss4037429149 NC_000002.12:25756465:AA: NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAA

(self)
8578992906 NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAA

(self)
ss294976512, ss326188474, ss551061440 NC_000002.10:25832838:A: NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAA

(self)
7267091, 654928, 1773827, ss663299119, ss666141712, ss976604137, ss1368146341, ss1536281537, ss1575370853, ss3728248256, ss3826875232, ss5150365184, ss5819805344 NC_000002.11:25979334:A: NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAA

(self)
3706771, ss3645541287, ss3646988806, ss3703467272, ss3800872465, ss3947328770, ss4037429148, ss5247297860, ss5447571346, ss5678698961, ss5929472994 NC_000002.12:25756465:A: NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAA

(self)
8578992906 NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAA

(self)
ss96720535 NT_022184.15:4801221:A: NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAA

(self)
ss5506329930 NC_000002.11:25979334::A NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAA

ss4037429121, ss5447571348, ss5678698962 NC_000002.12:25756465::A NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAA

(self)
8578992906 NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAA

(self)
ss3703467271 NC_000002.12:25756466::A NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAA

(self)
ss4037429122 NC_000002.12:25756465::AAA NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3703467270 NC_000002.12:25756466::AAA NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4037429123 NC_000002.12:25756465::AAAAAAAAAAAA NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3728248255 NC_000002.11:25979334::AAAAAAAAAAA…

NC_000002.11:25979334::AAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429124 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5150365186 NC_000002.11:25979334::AAAAAAAAAAA…

NC_000002.11:25979334::AAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429125 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429126 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5150365185 NC_000002.11:25979334::AAAAAAAAAAA…

NC_000002.11:25979334::AAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429127, ss5678698963 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429128 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429129 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429130 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429131 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429132 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429133 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429134 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429135 NC_000002.12:25756465::AAAAAAAAAAA…

NC_000002.12:25756465::AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25756465:AAAAAAAAAA:A…

NC_000002.12:25756465:AAAAAAAAAA:AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs71399321

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