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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.

rs756976096

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:414815 (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
A>C / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/251462, GnomAD_exome)
T=0.000008 (1/121410, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DOCK8 : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 251462 A=0.999996 T=0.000004
gnomAD - Exomes European Sub 135388 A=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 49010 A=1.00000 T=0.00000
gnomAD - Exomes American Sub 34592 A=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 A=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 A=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6136 A=1.0000 T=0.0000
ExAC Global Study-wide 121410 A=0.999992 T=0.000008
ExAC Europe Sub 73352 A=0.99999 T=0.00001
ExAC Asian Sub 25166 A=1.00000 T=0.00000
ExAC American Sub 11578 A=1.00000 T=0.00000
ExAC African Sub 10406 A=1.00000 T=0.00000
ExAC Other Sub 908 A=1.000 T=0.000
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.414815A>C
GRCh38.p14 chr 9 NC_000009.12:g.414815A>T
GRCh37.p13 chr 9 NC_000009.11:g.414815A>C
GRCh37.p13 chr 9 NC_000009.11:g.414815A>T
DOCK8 RefSeqGene (LRG_196) NG_017007.1:g.204951A>C
DOCK8 RefSeqGene (LRG_196) NG_017007.1:g.204951A>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.3264A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 2 NP_001177387.1:p.Ala1088= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant 2 NM_001190458.2:c.3264A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 2 NP_001177387.1:p.Ala1088= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant 1 NM_203447.4:c.3564A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 1 NP_982272.2:p.Ala1188= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant 1 NM_203447.4:c.3564A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 1 NP_982272.2:p.Ala1188= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant 3 NM_001193536.2:c.3360A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 3 NP_001180465.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant 3 NM_001193536.2:c.3360A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform 3 NP_001180465.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X1 XM_047423927.1:c.3360A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279883.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X1 XM_047423927.1:c.3360A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279883.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X2 XM_017015173.2:c.3360A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_016870662.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X2 XM_017015173.2:c.3360A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_016870662.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X3 XM_047423928.1:c.3360A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279884.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X3 XM_047423928.1:c.3360A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279884.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X4 XM_047423929.1:c.3360A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_047279885.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X4 XM_047423929.1:c.3360A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_047279885.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X5 XM_047423930.1:c.3264A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3 XP_047279886.1:p.Ala1088= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X5 XM_047423930.1:c.3264A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3 XP_047279886.1:p.Ala1088= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X6 XM_011518045.4:c.3264A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X4 XP_011516347.1:p.Ala1088= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X6 XM_011518045.4:c.3264A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X4 XP_011516347.1:p.Ala1088= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X7 XM_047423931.1:c.3465A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X5 XP_047279887.1:p.Ala1155= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X7 XM_047423931.1:c.3465A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X5 XP_047279887.1:p.Ala1155= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X8 XM_047423932.1:c.3465A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X5 XP_047279888.1:p.Ala1155= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X8 XM_047423932.1:c.3465A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X5 XP_047279888.1:p.Ala1155= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X9 XM_047423933.1:c.3360A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_047279889.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X9 XM_047423933.1:c.3360A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X2 XP_047279889.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X10 XM_047423934.1:c.3426A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X6 XP_047279890.1:p.Ala1142= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X10 XM_047423934.1:c.3426A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X6 XP_047279890.1:p.Ala1142= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X11 XM_011518046.3:c.3426A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X7 XP_011516348.1:p.Ala1142= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X11 XM_011518046.3:c.3426A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X7 XP_011516348.1:p.Ala1142= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X12 XM_047423935.1:c.3360A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279891.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X12 XM_047423935.1:c.3360A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X1 XP_047279891.1:p.Ala1120= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X13 XM_047423936.1:c.3330A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X8 XP_047279892.1:p.Ala1110= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X13 XM_047423936.1:c.3330A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X8 XP_047279892.1:p.Ala1110= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X14 XM_047423937.1:c.3264A>C A [GCA] > A [GCC] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3 XP_047279893.1:p.Ala1088= A (Ala) > A (Ala) Synonymous Variant
DOCK8 transcript variant X14 XM_047423937.1:c.3264A>T A [GCA] > A [GCT] Coding Sequence Variant
dedicator of cytokinesis protein 8 isoform X3 XP_047279893.1:p.Ala1088= A (Ala) > A (Ala) Synonymous 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= C T
GRCh38.p14 chr 9 NC_000009.12:g.414815= NC_000009.12:g.414815A>C NC_000009.12:g.414815A>T
GRCh37.p13 chr 9 NC_000009.11:g.414815= NC_000009.11:g.414815A>C NC_000009.11:g.414815A>T
DOCK8 RefSeqGene (LRG_196) NG_017007.1:g.204951= NG_017007.1:g.204951A>C NG_017007.1:g.204951A>T
DOCK8 transcript variant 1 NM_203447.4:c.3564= NM_203447.4:c.3564A>C NM_203447.4:c.3564A>T
DOCK8 transcript variant 1 NM_203447.3:c.3564= NM_203447.3:c.3564A>C NM_203447.3:c.3564A>T
DOCK8 transcript variant 3 NM_001193536.2:c.3360= NM_001193536.2:c.3360A>C NM_001193536.2:c.3360A>T
DOCK8 transcript variant 3 NM_001193536.1:c.3360= NM_001193536.1:c.3360A>C NM_001193536.1:c.3360A>T
DOCK8 transcript variant 2 NM_001190458.2:c.3264= NM_001190458.2:c.3264A>C NM_001190458.2:c.3264A>T
DOCK8 transcript variant 2 NM_001190458.1:c.3264= NM_001190458.1:c.3264A>C NM_001190458.1:c.3264A>T
DOCK8 transcript variant X6 XM_011518045.4:c.3264= XM_011518045.4:c.3264A>C XM_011518045.4:c.3264A>T
DOCK8 transcript variant X2 XM_011518045.3:c.3264= XM_011518045.3:c.3264A>C XM_011518045.3:c.3264A>T
DOCK8 transcript variant X2 XM_011518045.2:c.3264= XM_011518045.2:c.3264A>C XM_011518045.2:c.3264A>T
DOCK8 transcript variant X1 XM_011518045.1:c.3264= XM_011518045.1:c.3264A>C XM_011518045.1:c.3264A>T
DOCK8 transcript variant X11 XM_011518046.3:c.3426= XM_011518046.3:c.3426A>C XM_011518046.3:c.3426A>T
DOCK8 transcript variant X3 XM_011518046.2:c.3426= XM_011518046.2:c.3426A>C XM_011518046.2:c.3426A>T
DOCK8 transcript variant X2 XM_011518046.1:c.3426= XM_011518046.1:c.3426A>C XM_011518046.1:c.3426A>T
DOCK8 transcript variant X2 XM_017015173.2:c.3360= XM_017015173.2:c.3360A>C XM_017015173.2:c.3360A>T
DOCK8 transcript variant X1 XM_017015173.1:c.3360= XM_017015173.1:c.3360A>C XM_017015173.1:c.3360A>T
DOCK8 transcript variant X4 XM_047423929.1:c.3360= XM_047423929.1:c.3360A>C XM_047423929.1:c.3360A>T
DOCK8 transcript variant X13 XM_047423936.1:c.3330= XM_047423936.1:c.3330A>C XM_047423936.1:c.3330A>T
DOCK8 transcript variant X9 XM_047423933.1:c.3360= XM_047423933.1:c.3360A>C XM_047423933.1:c.3360A>T
DOCK8 transcript variant X8 XM_047423932.1:c.3465= XM_047423932.1:c.3465A>C XM_047423932.1:c.3465A>T
DOCK8 transcript variant X7 XM_047423931.1:c.3465= XM_047423931.1:c.3465A>C XM_047423931.1:c.3465A>T
DOCK8 transcript variant X10 XM_047423934.1:c.3426= XM_047423934.1:c.3426A>C XM_047423934.1:c.3426A>T
DOCK8 transcript variant X3 XM_047423928.1:c.3360= XM_047423928.1:c.3360A>C XM_047423928.1:c.3360A>T
DOCK8 transcript variant X1 XM_047423927.1:c.3360= XM_047423927.1:c.3360A>C XM_047423927.1:c.3360A>T
DOCK8 transcript variant X5 XM_047423930.1:c.3264= XM_047423930.1:c.3264A>C XM_047423930.1:c.3264A>T
DOCK8 transcript variant X12 XM_047423935.1:c.3360= XM_047423935.1:c.3360A>C XM_047423935.1:c.3360A>T
DOCK8 transcript variant X14 XM_047423937.1:c.3264= XM_047423937.1:c.3264A>C XM_047423937.1:c.3264A>T
dedicator of cytokinesis protein 8 isoform 1 NP_982272.2:p.Ala1188= NP_982272.2:p.Ala1188= NP_982272.2:p.Ala1188=
dedicator of cytokinesis protein 8 isoform 3 NP_001180465.1:p.Ala1120= NP_001180465.1:p.Ala1120= NP_001180465.1:p.Ala1120=
dedicator of cytokinesis protein 8 isoform 2 NP_001177387.1:p.Ala1088= NP_001177387.1:p.Ala1088= NP_001177387.1:p.Ala1088=
dedicator of cytokinesis protein 8 isoform X4 XP_011516347.1:p.Ala1088= XP_011516347.1:p.Ala1088= XP_011516347.1:p.Ala1088=
dedicator of cytokinesis protein 8 isoform X7 XP_011516348.1:p.Ala1142= XP_011516348.1:p.Ala1142= XP_011516348.1:p.Ala1142=
dedicator of cytokinesis protein 8 isoform X2 XP_016870662.1:p.Ala1120= XP_016870662.1:p.Ala1120= XP_016870662.1:p.Ala1120=
dedicator of cytokinesis protein 8 isoform X2 XP_047279885.1:p.Ala1120= XP_047279885.1:p.Ala1120= XP_047279885.1:p.Ala1120=
dedicator of cytokinesis protein 8 isoform X8 XP_047279892.1:p.Ala1110= XP_047279892.1:p.Ala1110= XP_047279892.1:p.Ala1110=
dedicator of cytokinesis protein 8 isoform X2 XP_047279889.1:p.Ala1120= XP_047279889.1:p.Ala1120= XP_047279889.1:p.Ala1120=
dedicator of cytokinesis protein 8 isoform X5 XP_047279888.1:p.Ala1155= XP_047279888.1:p.Ala1155= XP_047279888.1:p.Ala1155=
dedicator of cytokinesis protein 8 isoform X5 XP_047279887.1:p.Ala1155= XP_047279887.1:p.Ala1155= XP_047279887.1:p.Ala1155=
dedicator of cytokinesis protein 8 isoform X6 XP_047279890.1:p.Ala1142= XP_047279890.1:p.Ala1142= XP_047279890.1:p.Ala1142=
dedicator of cytokinesis protein 8 isoform X1 XP_047279884.1:p.Ala1120= XP_047279884.1:p.Ala1120= XP_047279884.1:p.Ala1120=
dedicator of cytokinesis protein 8 isoform X1 XP_047279883.1:p.Ala1120= XP_047279883.1:p.Ala1120= XP_047279883.1:p.Ala1120=
dedicator of cytokinesis protein 8 isoform X3 XP_047279886.1:p.Ala1088= XP_047279886.1:p.Ala1088= XP_047279886.1:p.Ala1088=
dedicator of cytokinesis protein 8 isoform X1 XP_047279891.1:p.Ala1120= XP_047279891.1:p.Ala1120= XP_047279891.1:p.Ala1120=
dedicator of cytokinesis protein 8 isoform X3 XP_047279893.1:p.Ala1088= XP_047279893.1:p.Ala1088= XP_047279893.1:p.Ala1088=
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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1689394255 Apr 01, 2015 (144)
2 GNOMAD ss2737467616 Nov 08, 2017 (151)
3 EVA ss5385389686 Oct 16, 2022 (156)
4 ExAC NC_000009.11 - 414815 Oct 12, 2018 (152)
5 gnomAD - Exomes NC_000009.11 - 414815 Jul 13, 2019 (153)
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
ss5385389686 NC_000009.11:414814:A:C NC_000009.12:414814:A:C
9510162, 6643166, ss1689394255, ss2737467616 NC_000009.11:414814:A:T NC_000009.12:414814:A: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 rs756976096

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