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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.

rs749064090

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:884082 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000008 (2/250988, GnomAD_exome)
T=0.000008 (1/120390, ExAC) (+ 1 more)
T=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GAK : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 C=1.00000 T=0.00000
European Sub 6962 C=1.0000 T=0.0000
African Sub 2294 C=1.0000 T=0.0000
African Others Sub 84 C=1.00 T=0.00
African American Sub 2210 C=1.0000 T=0.0000
Asian Sub 108 C=1.000 T=0.000
East Asian Sub 84 C=1.00 T=0.00
Other Asian Sub 24 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 94 C=1.00 T=0.00
Other Sub 466 C=1.000 T=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 T=0.000004
gnomAD - Exomes Global Study-wide 250988 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 135052 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 48998 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34548 C=0.99997 T=0.00003
gnomAD - Exomes African Sub 16208 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10058 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6124 C=1.0000 T=0.0000
ExAC Global Study-wide 120390 C=0.999992 T=0.000008
ExAC Europe Sub 72562 C=1.00000 T=0.00000
ExAC Asian Sub 25112 C=1.00000 T=0.00000
ExAC American Sub 11526 C=0.99991 T=0.00009
ExAC African Sub 10296 C=1.00000 T=0.00000
ExAC Other Sub 894 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=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 4 NC_000004.12:g.884082C>T
GRCh37.p13 chr 4 NC_000004.11:g.877870C>T
Gene: GAK, cyclin G associated kinase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GAK transcript variant 1 NM_005255.4:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform 1 NP_005246.2:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant 3 NM_001318134.2:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform 3 NP_001305063.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X1 XM_011513425.3:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X1 XP_011511727.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X2 XM_011513426.3:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X2 XP_011511728.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X3 XM_011513427.3:c.1120G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X3 XP_011511729.1:p.Ala374Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X4 XM_011513428.3:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X4 XP_011511730.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X5 XM_005272268.3:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X5 XP_005272325.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X6 XM_011513429.3:c.1024G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X6 XP_011511731.1:p.Ala342Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X7 XM_017007991.2:c.1120G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X7 XP_016863480.1:p.Ala374Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X8 XM_011513430.2:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X8 XP_011511732.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X9 XM_011513431.3:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X9 XP_011511733.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X10 XM_047450002.1:c.1120G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X10 XP_047305958.1:p.Ala374Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X11 XM_011513432.3:c.946G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X11 XP_011511734.1:p.Ala316Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X12 XM_047450003.1:c.946G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X11 XP_047305959.1:p.Ala316Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X13 XM_047450004.1:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X12 XP_047305960.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X14 XM_047450005.1:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X13 XP_047305961.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X15 XM_047450006.1:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X14 XP_047305962.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X16 XM_047450007.1:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X15 XP_047305963.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X17 XM_047450008.1:c.1024G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X16 XP_047305964.1:p.Ala342Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X18 XM_017007992.2:c.883G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X17 XP_016863481.1:p.Ala295Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X19 XM_047450010.1:c.1120G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X18 XP_047305966.1:p.Ala374Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X20 XM_047450011.1:c.1024G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X19 XP_047305967.1:p.Ala342Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X21 XM_005272270.3:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X20 XP_005272327.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X22 XM_047450012.1:c.1120G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X21 XP_047305968.1:p.Ala374Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X23 XM_047450013.1:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X22 XP_047305969.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X24 XM_047450014.1:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X23 XP_047305970.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X25 XM_047450015.1:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X24 XP_047305971.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X26 XM_047450016.1:c.934G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X25 XP_047305972.1:p.Ala312Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X27 XM_017007993.2:c.802G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X26 XP_016863482.1:p.Ala268Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X28 XM_011513434.3:c.802G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X26 XP_011511736.1:p.Ala268Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X29 XM_047450018.1:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X27 XP_047305974.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X30 XM_047450019.1:c.883G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X28 XP_047305975.1:p.Ala295Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X31 XM_047450020.1:c.1024G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X29 XP_047305976.1:p.Ala342Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X32 XM_017007994.2:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X30 XP_016863483.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X33 XM_047450021.1:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X31 XP_047305977.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X34 XM_047450022.1:c.883G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X32 XP_047305978.1:p.Ala295Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X35 XM_047450023.1:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X33 XP_047305979.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X36 XM_047450024.1:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X34 XP_047305980.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X37 XM_047450025.1:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X35 XP_047305981.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X38 XM_047450026.1:c.1210G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X36 XP_047305982.1:p.Ala404Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X39 XM_047450028.1:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X37 XP_047305984.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X40 XM_047450029.1:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X38 XP_047305985.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X41 XM_047450030.1:c.1120G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X39 XP_047305986.1:p.Ala374Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X42 XM_047450031.1:c.973G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X40 XP_047305987.1:p.Ala325Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X43 XM_047450032.1:c.883G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X41 XP_047305988.1:p.Ala295Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X44 XM_047450033.1:c.538G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X42 XP_047305989.1:p.Ala180Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X45 XM_047450034.1:c.538G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X42 XP_047305990.1:p.Ala180Thr A (Ala) > T (Thr) Missense Variant
GAK transcript variant X46 XM_047450035.1:c.538G>A A [GCA] > T [ACA] Coding Sequence Variant
cyclin-G-associated kinase isoform X43 XP_047305991.1:p.Ala180Thr A (Ala) > T (Thr) Missense 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 C= T
GRCh38.p14 chr 4 NC_000004.12:g.884082= NC_000004.12:g.884082C>T
GRCh37.p13 chr 4 NC_000004.11:g.877870= NC_000004.11:g.877870C>T
GAK transcript variant 1 NM_005255.4:c.1210= NM_005255.4:c.1210G>A
GAK transcript variant 1 NM_005255.3:c.1210= NM_005255.3:c.1210G>A
GAK transcript variant 1 NM_005255.2:c.1210= NM_005255.2:c.1210G>A
GAK transcript variant X6 XM_011513429.3:c.1024= XM_011513429.3:c.1024G>A
GAK transcript variant X6 XM_011513429.2:c.1024= XM_011513429.2:c.1024G>A
GAK transcript variant X6 XM_011513429.1:c.1024= XM_011513429.1:c.1024G>A
GAK transcript variant X1 XM_011513425.3:c.1210= XM_011513425.3:c.1210G>A
GAK transcript variant X1 XM_011513425.2:c.1210= XM_011513425.2:c.1210G>A
GAK transcript variant X1 XM_011513425.1:c.1210= XM_011513425.1:c.1210G>A
GAK transcript variant X11 XM_011513432.3:c.946= XM_011513432.3:c.946G>A
GAK transcript variant X10 XM_011513432.2:c.946= XM_011513432.2:c.946G>A
GAK transcript variant X9 XM_011513432.1:c.946= XM_011513432.1:c.946G>A
GAK transcript variant X2 XM_011513426.3:c.1210= XM_011513426.3:c.1210G>A
GAK transcript variant X2 XM_011513426.2:c.1210= XM_011513426.2:c.1210G>A
GAK transcript variant X2 XM_011513426.1:c.1210= XM_011513426.1:c.1210G>A
GAK transcript variant X3 XM_011513427.3:c.1120= XM_011513427.3:c.1120G>A
GAK transcript variant X3 XM_011513427.2:c.1120= XM_011513427.2:c.1120G>A
GAK transcript variant X3 XM_011513427.1:c.1120= XM_011513427.1:c.1120G>A
GAK transcript variant X4 XM_011513428.3:c.1210= XM_011513428.3:c.1210G>A
GAK transcript variant X4 XM_011513428.2:c.1210= XM_011513428.2:c.1210G>A
GAK transcript variant X4 XM_011513428.1:c.1210= XM_011513428.1:c.1210G>A
GAK transcript variant X5 XM_005272268.3:c.1210= XM_005272268.3:c.1210G>A
GAK transcript variant X5 XM_005272268.2:c.1210= XM_005272268.2:c.1210G>A
GAK transcript variant X5 XM_005272268.1:c.1210= XM_005272268.1:c.1210G>A
GAK transcript variant X28 XM_011513434.3:c.802= XM_011513434.3:c.802G>A
GAK transcript variant X13 XM_011513434.2:c.802= XM_011513434.2:c.802G>A
GAK transcript variant X12 XM_011513434.1:c.802= XM_011513434.1:c.802G>A
GAK transcript variant X9 XM_011513431.3:c.1210= XM_011513431.3:c.1210G>A
GAK transcript variant X9 XM_011513431.2:c.1210= XM_011513431.2:c.1210G>A
GAK transcript variant X8 XM_011513431.1:c.1210= XM_011513431.1:c.1210G>A
GAK transcript variant X21 XM_005272270.3:c.1210= XM_005272270.3:c.1210G>A
GAK transcript variant X12 XM_005272270.2:c.1210= XM_005272270.2:c.1210G>A
GAK transcript variant X10 XM_005272270.1:c.1210= XM_005272270.1:c.1210G>A
GAK transcript variant X27 XM_017007993.2:c.802= XM_017007993.2:c.802G>A
GAK transcript variant X14 XM_017007993.1:c.802= XM_017007993.1:c.802G>A
GAK transcript variant X7 XM_017007991.2:c.1120= XM_017007991.2:c.1120G>A
GAK transcript variant X7 XM_017007991.1:c.1120= XM_017007991.1:c.1120G>A
GAK transcript variant X8 XM_011513430.2:c.973= XM_011513430.2:c.973G>A
GAK transcript variant X8 XM_011513430.1:c.973= XM_011513430.1:c.973G>A
GAK transcript variant X18 XM_017007992.2:c.883= XM_017007992.2:c.883G>A
GAK transcript variant X11 XM_017007992.1:c.883= XM_017007992.1:c.883G>A
GAK transcript variant 3 NM_001318134.2:c.973= NM_001318134.2:c.973G>A
GAK transcript variant 3 NM_001318134.1:c.973= NM_001318134.1:c.973G>A
GAK transcript variant X32 XM_017007994.2:c.1210= XM_017007994.2:c.1210G>A
GAK transcript variant X15 XM_017007994.1:c.1210= XM_017007994.1:c.1210G>A
GAK transcript variant X31 XM_047450020.1:c.1024= XM_047450020.1:c.1024G>A
GAK transcript variant X17 XM_047450008.1:c.1024= XM_047450008.1:c.1024G>A
GAK transcript variant X20 XM_047450011.1:c.1024= XM_047450011.1:c.1024G>A
GAK transcript variant X26 XM_047450016.1:c.934= XM_047450016.1:c.934G>A
GAK transcript variant X12 XM_047450003.1:c.946= XM_047450003.1:c.946G>A
GAK transcript variant X10 XM_047450002.1:c.1120= XM_047450002.1:c.1120G>A
GAK transcript variant X13 XM_047450004.1:c.973= XM_047450004.1:c.973G>A
GAK transcript variant X14 XM_047450005.1:c.1210= XM_047450005.1:c.1210G>A
GAK transcript variant X15 XM_047450006.1:c.1210= XM_047450006.1:c.1210G>A
GAK transcript variant X16 XM_047450007.1:c.1210= XM_047450007.1:c.1210G>A
GAK transcript variant X19 XM_047450010.1:c.1120= XM_047450010.1:c.1120G>A
GAK transcript variant 2 NM_001286833.1:c.916= NM_001286833.1:c.916G>A
GAK transcript variant X22 XM_047450012.1:c.1120= XM_047450012.1:c.1120G>A
GAK transcript variant X23 XM_047450013.1:c.1210= XM_047450013.1:c.1210G>A
GAK transcript variant X24 XM_047450014.1:c.1210= XM_047450014.1:c.1210G>A
GAK transcript variant X25 XM_047450015.1:c.973= XM_047450015.1:c.973G>A
GAK transcript variant X29 XM_047450018.1:c.1210= XM_047450018.1:c.1210G>A
GAK transcript variant X30 XM_047450019.1:c.883= XM_047450019.1:c.883G>A
GAK transcript variant X33 XM_047450021.1:c.973= XM_047450021.1:c.973G>A
GAK transcript variant X34 XM_047450022.1:c.883= XM_047450022.1:c.883G>A
GAK transcript variant X35 XM_047450023.1:c.1210= XM_047450023.1:c.1210G>A
GAK transcript variant X36 XM_047450024.1:c.973= XM_047450024.1:c.973G>A
GAK transcript variant X37 XM_047450025.1:c.973= XM_047450025.1:c.973G>A
GAK transcript variant X38 XM_047450026.1:c.1210= XM_047450026.1:c.1210G>A
GAK transcript variant X39 XM_047450028.1:c.973= XM_047450028.1:c.973G>A
GAK transcript variant X45 XM_047450034.1:c.538= XM_047450034.1:c.538G>A
GAK transcript variant X44 XM_047450033.1:c.538= XM_047450033.1:c.538G>A
GAK transcript variant X40 XM_047450029.1:c.973= XM_047450029.1:c.973G>A
GAK transcript variant X42 XM_047450031.1:c.973= XM_047450031.1:c.973G>A
GAK transcript variant X41 XM_047450030.1:c.1120= XM_047450030.1:c.1120G>A
GAK transcript variant X43 XM_047450032.1:c.883= XM_047450032.1:c.883G>A
GAK transcript variant X46 XM_047450035.1:c.538= XM_047450035.1:c.538G>A
cyclin-G-associated kinase isoform 1 NP_005246.2:p.Ala404= NP_005246.2:p.Ala404Thr
cyclin-G-associated kinase isoform X6 XP_011511731.1:p.Ala342= XP_011511731.1:p.Ala342Thr
cyclin-G-associated kinase isoform X1 XP_011511727.1:p.Ala404= XP_011511727.1:p.Ala404Thr
cyclin-G-associated kinase isoform X11 XP_011511734.1:p.Ala316= XP_011511734.1:p.Ala316Thr
cyclin-G-associated kinase isoform X2 XP_011511728.1:p.Ala404= XP_011511728.1:p.Ala404Thr
cyclin-G-associated kinase isoform X3 XP_011511729.1:p.Ala374= XP_011511729.1:p.Ala374Thr
cyclin-G-associated kinase isoform X4 XP_011511730.1:p.Ala404= XP_011511730.1:p.Ala404Thr
cyclin-G-associated kinase isoform X5 XP_005272325.1:p.Ala404= XP_005272325.1:p.Ala404Thr
cyclin-G-associated kinase isoform X26 XP_011511736.1:p.Ala268= XP_011511736.1:p.Ala268Thr
cyclin-G-associated kinase isoform X9 XP_011511733.1:p.Ala404= XP_011511733.1:p.Ala404Thr
cyclin-G-associated kinase isoform X20 XP_005272327.1:p.Ala404= XP_005272327.1:p.Ala404Thr
cyclin-G-associated kinase isoform X26 XP_016863482.1:p.Ala268= XP_016863482.1:p.Ala268Thr
cyclin-G-associated kinase isoform X7 XP_016863480.1:p.Ala374= XP_016863480.1:p.Ala374Thr
cyclin-G-associated kinase isoform X8 XP_011511732.1:p.Ala325= XP_011511732.1:p.Ala325Thr
cyclin-G-associated kinase isoform X17 XP_016863481.1:p.Ala295= XP_016863481.1:p.Ala295Thr
cyclin-G-associated kinase isoform 3 NP_001305063.1:p.Ala325= NP_001305063.1:p.Ala325Thr
cyclin-G-associated kinase isoform X30 XP_016863483.1:p.Ala404= XP_016863483.1:p.Ala404Thr
cyclin-G-associated kinase isoform X29 XP_047305976.1:p.Ala342= XP_047305976.1:p.Ala342Thr
cyclin-G-associated kinase isoform X16 XP_047305964.1:p.Ala342= XP_047305964.1:p.Ala342Thr
cyclin-G-associated kinase isoform X19 XP_047305967.1:p.Ala342= XP_047305967.1:p.Ala342Thr
cyclin-G-associated kinase isoform X25 XP_047305972.1:p.Ala312= XP_047305972.1:p.Ala312Thr
cyclin-G-associated kinase isoform X11 XP_047305959.1:p.Ala316= XP_047305959.1:p.Ala316Thr
cyclin-G-associated kinase isoform X10 XP_047305958.1:p.Ala374= XP_047305958.1:p.Ala374Thr
cyclin-G-associated kinase isoform X12 XP_047305960.1:p.Ala325= XP_047305960.1:p.Ala325Thr
cyclin-G-associated kinase isoform X13 XP_047305961.1:p.Ala404= XP_047305961.1:p.Ala404Thr
cyclin-G-associated kinase isoform X14 XP_047305962.1:p.Ala404= XP_047305962.1:p.Ala404Thr
cyclin-G-associated kinase isoform X15 XP_047305963.1:p.Ala404= XP_047305963.1:p.Ala404Thr
cyclin-G-associated kinase isoform X18 XP_047305966.1:p.Ala374= XP_047305966.1:p.Ala374Thr
cyclin-G-associated kinase isoform X21 XP_047305968.1:p.Ala374= XP_047305968.1:p.Ala374Thr
cyclin-G-associated kinase isoform X22 XP_047305969.1:p.Ala404= XP_047305969.1:p.Ala404Thr
cyclin-G-associated kinase isoform X23 XP_047305970.1:p.Ala404= XP_047305970.1:p.Ala404Thr
cyclin-G-associated kinase isoform X24 XP_047305971.1:p.Ala325= XP_047305971.1:p.Ala325Thr
cyclin-G-associated kinase isoform X27 XP_047305974.1:p.Ala404= XP_047305974.1:p.Ala404Thr
cyclin-G-associated kinase isoform X28 XP_047305975.1:p.Ala295= XP_047305975.1:p.Ala295Thr
cyclin-G-associated kinase isoform X31 XP_047305977.1:p.Ala325= XP_047305977.1:p.Ala325Thr
cyclin-G-associated kinase isoform X32 XP_047305978.1:p.Ala295= XP_047305978.1:p.Ala295Thr
cyclin-G-associated kinase isoform X33 XP_047305979.1:p.Ala404= XP_047305979.1:p.Ala404Thr
cyclin-G-associated kinase isoform X34 XP_047305980.1:p.Ala325= XP_047305980.1:p.Ala325Thr
cyclin-G-associated kinase isoform X35 XP_047305981.1:p.Ala325= XP_047305981.1:p.Ala325Thr
cyclin-G-associated kinase isoform X36 XP_047305982.1:p.Ala404= XP_047305982.1:p.Ala404Thr
cyclin-G-associated kinase isoform X37 XP_047305984.1:p.Ala325= XP_047305984.1:p.Ala325Thr
cyclin-G-associated kinase isoform X42 XP_047305990.1:p.Ala180= XP_047305990.1:p.Ala180Thr
cyclin-G-associated kinase isoform X42 XP_047305989.1:p.Ala180= XP_047305989.1:p.Ala180Thr
cyclin-G-associated kinase isoform X38 XP_047305985.1:p.Ala325= XP_047305985.1:p.Ala325Thr
cyclin-G-associated kinase isoform X40 XP_047305987.1:p.Ala325= XP_047305987.1:p.Ala325Thr
cyclin-G-associated kinase isoform X39 XP_047305986.1:p.Ala374= XP_047305986.1:p.Ala374Thr
cyclin-G-associated kinase isoform X41 XP_047305988.1:p.Ala295= XP_047305988.1:p.Ala295Thr
cyclin-G-associated kinase isoform X43 XP_047305991.1:p.Ala180= XP_047305991.1:p.Ala180Thr
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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, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1687378601 Apr 01, 2015 (144)
2 GNOMAD ss2734329705 Nov 08, 2017 (151)
3 TOPMED ss4599954509 Apr 26, 2021 (155)
4 ExAC NC_000004.11 - 877870 Oct 12, 2018 (152)
5 gnomAD - Exomes NC_000004.11 - 877870 Jul 13, 2019 (153)
6 TopMed NC_000004.12 - 884082 Apr 26, 2021 (155)
7 ALFA NC_000004.12 - 884082 Apr 26, 2021 (155)
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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
7333760, 3429296, ss1687378601, ss2734329705 NC_000004.11:877869:C:T NC_000004.12:884081:C:T (self)
437332065, 5793617293, ss4599954509 NC_000004.12:884081:C:T NC_000004.12:884081:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs749064090

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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