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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.

rs1057518028

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:340290 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/264690, TOPMED)
G=0.000007 (1/140176, GnomAD)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DOCK8 : Stop Gained
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 C=1.00000 G=0.00000
European Sub 6962 C=1.0000 G=0.0000
African Sub 2294 C=1.0000 G=0.0000
African Others Sub 84 C=1.00 G=0.00
African American Sub 2210 C=1.0000 G=0.0000
Asian Sub 108 C=1.000 G=0.000
East Asian Sub 84 C=1.00 G=0.00
Other Asian Sub 24 C=1.00 G=0.00
Latin American 1 Sub 146 C=1.000 G=0.000
Latin American 2 Sub 610 C=1.000 G=0.000
South Asian Sub 94 C=1.00 G=0.00
Other Sub 466 C=1.000 G=0.000


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 C=0.999996 G=0.000004
gnomAD - Genomes Global Study-wide 140176 C=0.999993 G=0.000007
gnomAD - Genomes European Sub 75908 C=0.99999 G=0.00001
gnomAD - Genomes African Sub 42018 C=1.00000 G=0.00000
gnomAD - Genomes American Sub 13650 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2148 C=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 10680 C=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 G=0.00
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 9 NC_000009.12:g.340290C>G
GRCh38.p14 chr 9 NC_000009.12:g.340290C>T
GRCh37.p13 chr 9 NC_000009.11:g.340290C>G
GRCh37.p13 chr 9 NC_000009.11:g.340290C>T
DOCK8 RefSeqGene (LRG_196) NG_017007.1:g.130426C>G
DOCK8 RefSeqGene (LRG_196) NG_017007.1:g.130426C>T
Gene: DOCK8, dedicator of cytokinesis 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DOCK8 transcript variant 2 NM_001190458.2:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 2 NP_001177387.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant 2 NM_001190458.2:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 2 NP_001177387.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant 1 NM_203447.4:c.1648C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 1 NP_982272.2:p.Arg550Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant 1 NM_203447.4:c.1648C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 1 NP_982272.2:p.Arg550Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant 3 NM_001193536.2:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 3 NP_001180465.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant 3 NM_001193536.2:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 3 NP_001180465.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X1 XM_047423927.1:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279883.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X1 XM_047423927.1:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279883.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X2 XM_017015173.2:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_016870662.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X2 XM_017015173.2:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_016870662.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X3 XM_047423928.1:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279884.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X3 XM_047423928.1:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279884.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X4 XM_047423929.1:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_047279885.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X4 XM_047423929.1:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_047279885.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X5 XM_047423930.1:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3 XP_047279886.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X5 XM_047423930.1:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3 XP_047279886.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X6 XM_011518045.4:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X4 XP_011516347.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X6 XM_011518045.4:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X4 XP_011516347.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X7 XM_047423931.1:c.1549C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X5 XP_047279887.1:p.Arg517Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X7 XM_047423931.1:c.1549C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X5 XP_047279887.1:p.Arg517Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X8 XM_047423932.1:c.1549C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X5 XP_047279888.1:p.Arg517Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X8 XM_047423932.1:c.1549C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X5 XP_047279888.1:p.Arg517Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X9 XM_047423933.1:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_047279889.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X9 XM_047423933.1:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_047279889.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X10 XM_047423934.1:c.1510C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X6 XP_047279890.1:p.Arg504Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X10 XM_047423934.1:c.1510C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X6 XP_047279890.1:p.Arg504Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X11 XM_011518046.3:c.1510C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X7 XP_011516348.1:p.Arg504Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X11 XM_011518046.3:c.1510C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X7 XP_011516348.1:p.Arg504Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X12 XM_047423935.1:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279891.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X12 XM_047423935.1:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279891.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X13 XM_047423936.1:c.1510C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X8 XP_047279892.1:p.Arg504Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X13 XM_047423936.1:c.1510C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X8 XP_047279892.1:p.Arg504Ter R (Arg) > * (Ter) Stop Gained
DOCK8 transcript variant X14 XM_047423937.1:c.1444C>G R [CGA] > G [GGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3 XP_047279893.1:p.Arg482Gly R (Arg) > G (Gly) Missense Variant
DOCK8 transcript variant X14 XM_047423937.1:c.1444C>T R [CGA] > * [TGA] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3 XP_047279893.1:p.Arg482Ter R (Arg) > * (Ter) Stop Gained
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.

Allele: T (allele ID: 359808 )
ClinVar Accession Disease Names Clinical Significance
RCV000412782.1 not provided Likely-Pathogenic
RCV001861419.1 Combined immunodeficiency due to DOCK8 deficiency Pathogenic
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 C= G T
GRCh38.p14 chr 9 NC_000009.12:g.340290= NC_000009.12:g.340290C>G NC_000009.12:g.340290C>T
GRCh37.p13 chr 9 NC_000009.11:g.340290= NC_000009.11:g.340290C>G NC_000009.11:g.340290C>T
DOCK8 RefSeqGene (LRG_196) NG_017007.1:g.130426= NG_017007.1:g.130426C>G NG_017007.1:g.130426C>T
DOCK8 transcript variant 1 NM_203447.4:c.1648= NM_203447.4:c.1648C>G NM_203447.4:c.1648C>T
DOCK8 transcript variant 1 NM_203447.3:c.1648= NM_203447.3:c.1648C>G NM_203447.3:c.1648C>T
DOCK8 transcript variant 3 NM_001193536.2:c.1444= NM_001193536.2:c.1444C>G NM_001193536.2:c.1444C>T
DOCK8 transcript variant 3 NM_001193536.1:c.1444= NM_001193536.1:c.1444C>G NM_001193536.1:c.1444C>T
DOCK8 transcript variant 2 NM_001190458.2:c.1444= NM_001190458.2:c.1444C>G NM_001190458.2:c.1444C>T
DOCK8 transcript variant 2 NM_001190458.1:c.1444= NM_001190458.1:c.1444C>G NM_001190458.1:c.1444C>T
DOCK8 transcript variant X6 XM_011518045.4:c.1444= XM_011518045.4:c.1444C>G XM_011518045.4:c.1444C>T
DOCK8 transcript variant X2 XM_011518045.3:c.1444= XM_011518045.3:c.1444C>G XM_011518045.3:c.1444C>T
DOCK8 transcript variant X2 XM_011518045.2:c.1444= XM_011518045.2:c.1444C>G XM_011518045.2:c.1444C>T
DOCK8 transcript variant X1 XM_011518045.1:c.1444= XM_011518045.1:c.1444C>G XM_011518045.1:c.1444C>T
DOCK8 transcript variant X11 XM_011518046.3:c.1510= XM_011518046.3:c.1510C>G XM_011518046.3:c.1510C>T
DOCK8 transcript variant X3 XM_011518046.2:c.1510= XM_011518046.2:c.1510C>G XM_011518046.2:c.1510C>T
DOCK8 transcript variant X2 XM_011518046.1:c.1510= XM_011518046.1:c.1510C>G XM_011518046.1:c.1510C>T
DOCK8 transcript variant X2 XM_017015173.2:c.1444= XM_017015173.2:c.1444C>G XM_017015173.2:c.1444C>T
DOCK8 transcript variant X1 XM_017015173.1:c.1444= XM_017015173.1:c.1444C>G XM_017015173.1:c.1444C>T
DOCK8 transcript variant X4 XM_047423929.1:c.1444= XM_047423929.1:c.1444C>G XM_047423929.1:c.1444C>T
DOCK8 transcript variant X13 XM_047423936.1:c.1510= XM_047423936.1:c.1510C>G XM_047423936.1:c.1510C>T
DOCK8 transcript variant X9 XM_047423933.1:c.1444= XM_047423933.1:c.1444C>G XM_047423933.1:c.1444C>T
DOCK8 transcript variant X8 XM_047423932.1:c.1549= XM_047423932.1:c.1549C>G XM_047423932.1:c.1549C>T
DOCK8 transcript variant X7 XM_047423931.1:c.1549= XM_047423931.1:c.1549C>G XM_047423931.1:c.1549C>T
DOCK8 transcript variant X10 XM_047423934.1:c.1510= XM_047423934.1:c.1510C>G XM_047423934.1:c.1510C>T
DOCK8 transcript variant X3 XM_047423928.1:c.1444= XM_047423928.1:c.1444C>G XM_047423928.1:c.1444C>T
DOCK8 transcript variant X1 XM_047423927.1:c.1444= XM_047423927.1:c.1444C>G XM_047423927.1:c.1444C>T
DOCK8 transcript variant X5 XM_047423930.1:c.1444= XM_047423930.1:c.1444C>G XM_047423930.1:c.1444C>T
DOCK8 transcript variant X12 XM_047423935.1:c.1444= XM_047423935.1:c.1444C>G XM_047423935.1:c.1444C>T
DOCK8 transcript variant X14 XM_047423937.1:c.1444= XM_047423937.1:c.1444C>G XM_047423937.1:c.1444C>T
dedicator of cytokinesis protein 8 isoform 1 NP_982272.2:p.Arg550= NP_982272.2:p.Arg550Gly NP_982272.2:p.Arg550Ter
dedicator of cytokinesis protein 8 isoform 3 NP_001180465.1:p.Arg482= NP_001180465.1:p.Arg482Gly NP_001180465.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform 2 NP_001177387.1:p.Arg482= NP_001177387.1:p.Arg482Gly NP_001177387.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X4 XP_011516347.1:p.Arg482= XP_011516347.1:p.Arg482Gly XP_011516347.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X7 XP_011516348.1:p.Arg504= XP_011516348.1:p.Arg504Gly XP_011516348.1:p.Arg504Ter
dedicator of cytokinesis protein 8 isoform X2 XP_016870662.1:p.Arg482= XP_016870662.1:p.Arg482Gly XP_016870662.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X2 XP_047279885.1:p.Arg482= XP_047279885.1:p.Arg482Gly XP_047279885.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X8 XP_047279892.1:p.Arg504= XP_047279892.1:p.Arg504Gly XP_047279892.1:p.Arg504Ter
dedicator of cytokinesis protein 8 isoform X2 XP_047279889.1:p.Arg482= XP_047279889.1:p.Arg482Gly XP_047279889.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X5 XP_047279888.1:p.Arg517= XP_047279888.1:p.Arg517Gly XP_047279888.1:p.Arg517Ter
dedicator of cytokinesis protein 8 isoform X5 XP_047279887.1:p.Arg517= XP_047279887.1:p.Arg517Gly XP_047279887.1:p.Arg517Ter
dedicator of cytokinesis protein 8 isoform X6 XP_047279890.1:p.Arg504= XP_047279890.1:p.Arg504Gly XP_047279890.1:p.Arg504Ter
dedicator of cytokinesis protein 8 isoform X1 XP_047279884.1:p.Arg482= XP_047279884.1:p.Arg482Gly XP_047279884.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X1 XP_047279883.1:p.Arg482= XP_047279883.1:p.Arg482Gly XP_047279883.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X3 XP_047279886.1:p.Arg482= XP_047279886.1:p.Arg482Gly XP_047279886.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X1 XP_047279891.1:p.Arg482= XP_047279891.1:p.Arg482Gly XP_047279891.1:p.Arg482Ter
dedicator of cytokinesis protein 8 isoform X3 XP_047279893.1:p.Arg482= XP_047279893.1:p.Arg482Gly XP_047279893.1:p.Arg482Ter
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#.

3 SubSNP, 3 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137342262 Jan 12, 2017 (149)
2 GNOMAD ss4195858444 Apr 27, 2021 (155)
3 TOPMED ss4808912484 Apr 27, 2021 (155)
4 gnomAD - Genomes NC_000009.12 - 340290 Apr 27, 2021 (155)
5 TopMed NC_000009.12 - 340290 Apr 27, 2021 (155)
6 ALFA NC_000009.12 - 340290 Apr 27, 2021 (155)
7 ClinVar RCV000412782.1 Oct 12, 2018 (152)
8 ClinVar RCV001861419.1 Oct 16, 2022 (156)
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
315146953, 646290045, 9834490636, ss4195858444, ss4808912484 NC_000009.12:340289:C:G NC_000009.12:340289:C:G (self)
RCV000412782.1, RCV001861419.1, ss2137342262 NC_000009.12:340289:C:T NC_000009.12:340289:C:T (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 rs1057518028

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.post761+d5e8e07