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.
rs200047571
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr4:849760 (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=0.000030 (8/264690, TOPMED)T=0.000024 (6/247764, GnomAD_exome)T=0.000014 (2/140152, GnomAD) (+ 7 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- GAK : Synonymous 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 | 14050 | C=1.00000 | T=0.00000 |
| European | Sub | 9690 | C=1.0000 | T=0.0000 |
| African | Sub | 2898 | C=1.0000 | T=0.0000 |
| African Others | Sub | 114 | C=1.000 | T=0.000 |
| African American | Sub | 2784 | C=1.0000 | T=0.0000 |
| Asian | Sub | 112 | C=1.000 | T=0.000 |
| East Asian | Sub | 86 | C=1.00 | T=0.00 |
| Other Asian | Sub | 26 | 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 | 98 | C=1.00 | T=0.00 |
| Other | Sub | 496 | C=1.000 | T=0.000 |
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=0.999970 | T=0.000030 |
| gnomAD - Exomes | Global | Study-wide | 247764 | C=0.999976 | T=0.000024 |
| gnomAD - Exomes | European | Sub | 132994 | C=0.999970 | T=0.000030 |
| gnomAD - Exomes | Asian | Sub | 48784 | C=0.99996 | T=0.00004 |
| gnomAD - Exomes | American | Sub | 34378 | C=1.00000 | T=0.00000 |
| gnomAD - Exomes | African | Sub | 15612 | C=1.00000 | T=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9952 | C=1.0000 | T=0.0000 |
| gnomAD - Exomes | Other | Sub | 6044 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140152 | C=0.999986 | T=0.000014 |
| gnomAD - Genomes | European | Sub | 75890 | C=1.00000 | T=0.00000 |
| gnomAD - Genomes | African | Sub | 41998 | C=0.99995 | T=0.00005 |
| gnomAD - Genomes | American | Sub | 13662 | C=1.00000 | T=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3128 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | C=1.0000 | T=0.0000 |
| ExAC | Global | Study-wide | 109772 | C=0.999973 | T=0.000027 |
| ExAC | Europe | Sub | 65970 | C=0.99995 | T=0.00005 |
| ExAC | Asian | Sub | 23646 | C=1.00000 | T=0.00000 |
| ExAC | American | Sub | 10694 | C=1.00000 | T=0.00000 |
| ExAC | African | Sub | 8680 | C=1.0000 | T=0.0000 |
| ExAC | Other | Sub | 782 | C=1.000 | T=0.000 |
| 14KJPN | JAPANESE | Study-wide | 28254 | C=0.99996 | T=0.00004 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=1.00000 | T=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | 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 | 496 | 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 | 112 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | T=0.00 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.99992 | T=0.00008 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.9999 | T=0.0001 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9998 | T=0.0002 |
| 1000Genomes_30x | African | Sub | 1786 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9991 | T=0.0009 |
| 1000Genomes_30x | American | Sub | 980 | C=1.000 | T=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9998 | T=0.0002 |
| 1000Genomes | African | Sub | 1322 | C=1.0000 | T=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9990 | T=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | C=1.0000 | T=0.0000 |
| 1000Genomes | South Asian | Sub | 978 | C=1.000 | T=0.000 |
| 1000Genomes | American | Sub | 694 | C=1.000 | T=0.000 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.999 | T=0.001 |
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.849760C>T |
| GRCh37.p13 chr 4 | NC_000004.11:g.843548C>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.3849G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform 1 | NP_005246.2:p.Pro1283= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant 3 | NM_001318134.2:c.3612G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform 3 | NP_001305063.1:p.Pro1204= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X32 | XM_017007994.2:c. | N/A | Genic Downstream Transcript Variant |
| GAK transcript variant X1 | XM_011513425.3:c.3981G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X1 | XP_011511727.1:p.Pro1327= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X2 | XM_011513426.3:c.3948G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X2 | XP_011511728.1:p.Pro1316= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X3 | XM_011513427.3:c.3891G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X3 | XP_011511729.1:p.Pro1297= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X4 | XM_011513428.3:c.3834G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X4 | XP_011511730.1:p.Pro1278= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X5 | XM_005272268.3:c.3816G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X5 | XP_005272325.1:p.Pro1272= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X6 | XM_011513429.3:c.3795G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X6 | XP_011511731.1:p.Pro1265= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X7 | XM_017007991.2:c.3759G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X7 | XP_016863480.1:p.Pro1253= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X8 | XM_011513430.2:c.3744G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X8 | XP_011511732.1:p.Pro1248= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X9 | XM_011513431.3:c.3732G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X9 | XP_011511733.1:p.Pro1244= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X10 | XM_047450002.1:c.3726G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X10 | XP_047305958.1:p.Pro1242= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X11 | XM_011513432.3:c.3717G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X11 | XP_011511734.1:p.Pro1239= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X12 | XM_047450003.1:c.3717G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X11 | XP_047305959.1:p.Pro1239= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X13 | XM_047450004.1:c.3711G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X12 | XP_047305960.1:p.Pro1237= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X14 | XM_047450005.1:c.3702G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X13 | XP_047305961.1:p.Pro1234= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X15 | XM_047450006.1:c.3699G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X14 | XP_047305962.1:p.Pro1233= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X16 | XM_047450007.1:c.3669G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X15 | XP_047305963.1:p.Pro1223= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X17 | XM_047450008.1:c.3663G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X16 | XP_047305964.1:p.Pro1221= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X18 | XM_017007992.2:c.3654G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X17 | XP_016863481.1:p.Pro1218= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X19 | XM_047450010.1:c.3642G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X18 | XP_047305966.1:p.Pro1214= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X20 | XM_047450011.1:c.3630G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X19 | XP_047305967.1:p.Pro1210= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X21 | XM_005272270.3:c.3624G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X20 | XP_005272327.1:p.Pro1208= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X22 | XM_047450012.1:c.3612G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X21 | XP_047305968.1:p.Pro1204= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X23 | XM_047450013.1:c.3591G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X22 | XP_047305969.1:p.Pro1197= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X24 | XM_047450014.1:c.3585G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X23 | XP_047305970.1:p.Pro1195= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X25 | XM_047450015.1:c.3579G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X24 | XP_047305971.1:p.Pro1193= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X26 | XM_047450016.1:c.3573G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X25 | XP_047305972.1:p.Pro1191= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X27 | XM_017007993.2:c.3573G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X26 | XP_016863482.1:p.Pro1191= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X28 | XM_011513434.3:c.3573G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X26 | XP_011511736.1:p.Pro1191= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X29 | XM_047450018.1:c.3552G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X27 | XP_047305974.1:p.Pro1184= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X30 | XM_047450019.1:c.3522G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X28 | XP_047305975.1:p.Pro1174= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X31 | XM_047450020.1:c.3516G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X29 | XP_047305976.1:p.Pro1172= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X33 | XM_047450021.1:c.3495G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X31 | XP_047305977.1:p.Pro1165= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X34 | XM_047450022.1:c.3489G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X32 | XP_047305978.1:p.Pro1163= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X35 | XM_047450023.1:c.3477G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X33 | XP_047305979.1:p.Pro1159= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X36 | XM_047450024.1:c.3465G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X34 | XP_047305980.1:p.Pro1155= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X37 | XM_047450025.1:c.3462G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X35 | XP_047305981.1:p.Pro1154= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X38 | XM_047450026.1:c.3444G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X36 | XP_047305982.1:p.Pro1148= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X39 | XM_047450028.1:c.3432G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X37 | XP_047305984.1:p.Pro1144= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X40 | XM_047450029.1:c.3387G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X38 | XP_047305985.1:p.Pro1129= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X41 | XM_047450030.1:c.3354G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X39 | XP_047305986.1:p.Pro1118= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X42 | XM_047450031.1:c.3354G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X40 | XP_047305987.1:p.Pro1118= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X43 | XM_047450032.1:c.3342G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X41 | XP_047305988.1:p.Pro1114= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X44 | XM_047450033.1:c.3309G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X42 | XP_047305989.1:p.Pro1103= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X45 | XM_047450034.1:c.3309G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X42 | XP_047305990.1:p.Pro1103= | P (Pro) > P (Pro) | Synonymous Variant |
| GAK transcript variant X46 | XM_047450035.1:c.3177G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
| cyclin-G-associated kinase isoform X43 | XP_047305991.1:p.Pro1059= | P (Pro) > P (Pro) | 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 | C= | T |
|---|---|---|
| GRCh38.p14 chr 4 | NC_000004.12:g.849760= | NC_000004.12:g.849760C>T |
| GRCh37.p13 chr 4 | NC_000004.11:g.843548= | NC_000004.11:g.843548C>T |
| GAK transcript variant 1 | NM_005255.4:c.3849= | NM_005255.4:c.3849G>A |
| GAK transcript variant 1 | NM_005255.3:c.3849= | NM_005255.3:c.3849G>A |
| GAK transcript variant 1 | NM_005255.2:c.3849= | NM_005255.2:c.3849G>A |
| GAK transcript variant X6 | XM_011513429.3:c.3795= | XM_011513429.3:c.3795G>A |
| GAK transcript variant X6 | XM_011513429.2:c.3795= | XM_011513429.2:c.3795G>A |
| GAK transcript variant X6 | XM_011513429.1:c.3795= | XM_011513429.1:c.3795G>A |
| GAK transcript variant X1 | XM_011513425.3:c.3981= | XM_011513425.3:c.3981G>A |
| GAK transcript variant X1 | XM_011513425.2:c.3981= | XM_011513425.2:c.3981G>A |
| GAK transcript variant X1 | XM_011513425.1:c.3981= | XM_011513425.1:c.3981G>A |
| GAK transcript variant X11 | XM_011513432.3:c.3717= | XM_011513432.3:c.3717G>A |
| GAK transcript variant X10 | XM_011513432.2:c.3717= | XM_011513432.2:c.3717G>A |
| GAK transcript variant X9 | XM_011513432.1:c.3717= | XM_011513432.1:c.3717G>A |
| GAK transcript variant X2 | XM_011513426.3:c.3948= | XM_011513426.3:c.3948G>A |
| GAK transcript variant X2 | XM_011513426.2:c.3948= | XM_011513426.2:c.3948G>A |
| GAK transcript variant X2 | XM_011513426.1:c.3948= | XM_011513426.1:c.3948G>A |
| GAK transcript variant X3 | XM_011513427.3:c.3891= | XM_011513427.3:c.3891G>A |
| GAK transcript variant X3 | XM_011513427.2:c.3891= | XM_011513427.2:c.3891G>A |
| GAK transcript variant X3 | XM_011513427.1:c.3891= | XM_011513427.1:c.3891G>A |
| GAK transcript variant X4 | XM_011513428.3:c.3834= | XM_011513428.3:c.3834G>A |
| GAK transcript variant X4 | XM_011513428.2:c.3834= | XM_011513428.2:c.3834G>A |
| GAK transcript variant X4 | XM_011513428.1:c.3834= | XM_011513428.1:c.3834G>A |
| GAK transcript variant X5 | XM_005272268.3:c.3816= | XM_005272268.3:c.3816G>A |
| GAK transcript variant X5 | XM_005272268.2:c.3816= | XM_005272268.2:c.3816G>A |
| GAK transcript variant X5 | XM_005272268.1:c.3816= | XM_005272268.1:c.3816G>A |
| GAK transcript variant X28 | XM_011513434.3:c.3573= | XM_011513434.3:c.3573G>A |
| GAK transcript variant X13 | XM_011513434.2:c.3573= | XM_011513434.2:c.3573G>A |
| GAK transcript variant X12 | XM_011513434.1:c.3573= | XM_011513434.1:c.3573G>A |
| GAK transcript variant X9 | XM_011513431.3:c.3732= | XM_011513431.3:c.3732G>A |
| GAK transcript variant X9 | XM_011513431.2:c.3732= | XM_011513431.2:c.3732G>A |
| GAK transcript variant X8 | XM_011513431.1:c.3732= | XM_011513431.1:c.3732G>A |
| GAK transcript variant X21 | XM_005272270.3:c.3624= | XM_005272270.3:c.3624G>A |
| GAK transcript variant X12 | XM_005272270.2:c.3624= | XM_005272270.2:c.3624G>A |
| GAK transcript variant X10 | XM_005272270.1:c.3624= | XM_005272270.1:c.3624G>A |
| GAK transcript variant X27 | XM_017007993.2:c.3573= | XM_017007993.2:c.3573G>A |
| GAK transcript variant X14 | XM_017007993.1:c.3573= | XM_017007993.1:c.3573G>A |
| GAK transcript variant X7 | XM_017007991.2:c.3759= | XM_017007991.2:c.3759G>A |
| GAK transcript variant X7 | XM_017007991.1:c.3759= | XM_017007991.1:c.3759G>A |
| GAK transcript variant X8 | XM_011513430.2:c.3744= | XM_011513430.2:c.3744G>A |
| GAK transcript variant X8 | XM_011513430.1:c.3744= | XM_011513430.1:c.3744G>A |
| GAK transcript variant X18 | XM_017007992.2:c.3654= | XM_017007992.2:c.3654G>A |
| GAK transcript variant X11 | XM_017007992.1:c.3654= | XM_017007992.1:c.3654G>A |
| GAK transcript variant 3 | NM_001318134.2:c.3612= | NM_001318134.2:c.3612G>A |
| GAK transcript variant 3 | NM_001318134.1:c.3612= | NM_001318134.1:c.3612G>A |
| GAK transcript variant X31 | XM_047450020.1:c.3516= | XM_047450020.1:c.3516G>A |
| GAK transcript variant X17 | XM_047450008.1:c.3663= | XM_047450008.1:c.3663G>A |
| GAK transcript variant X20 | XM_047450011.1:c.3630= | XM_047450011.1:c.3630G>A |
| GAK transcript variant X26 | XM_047450016.1:c.3573= | XM_047450016.1:c.3573G>A |
| GAK transcript variant X12 | XM_047450003.1:c.3717= | XM_047450003.1:c.3717G>A |
| GAK transcript variant X10 | XM_047450002.1:c.3726= | XM_047450002.1:c.3726G>A |
| GAK transcript variant X13 | XM_047450004.1:c.3711= | XM_047450004.1:c.3711G>A |
| GAK transcript variant X14 | XM_047450005.1:c.3702= | XM_047450005.1:c.3702G>A |
| GAK transcript variant X15 | XM_047450006.1:c.3699= | XM_047450006.1:c.3699G>A |
| GAK transcript variant X16 | XM_047450007.1:c.3669= | XM_047450007.1:c.3669G>A |
| GAK transcript variant X19 | XM_047450010.1:c.3642= | XM_047450010.1:c.3642G>A |
| GAK transcript variant 2 | NM_001286833.1:c.3555= | NM_001286833.1:c.3555G>A |
| GAK transcript variant X22 | XM_047450012.1:c.3612= | XM_047450012.1:c.3612G>A |
| GAK transcript variant X23 | XM_047450013.1:c.3591= | XM_047450013.1:c.3591G>A |
| GAK transcript variant X24 | XM_047450014.1:c.3585= | XM_047450014.1:c.3585G>A |
| GAK transcript variant X25 | XM_047450015.1:c.3579= | XM_047450015.1:c.3579G>A |
| GAK transcript variant X29 | XM_047450018.1:c.3552= | XM_047450018.1:c.3552G>A |
| GAK transcript variant X30 | XM_047450019.1:c.3522= | XM_047450019.1:c.3522G>A |
| GAK transcript variant X33 | XM_047450021.1:c.3495= | XM_047450021.1:c.3495G>A |
| GAK transcript variant X34 | XM_047450022.1:c.3489= | XM_047450022.1:c.3489G>A |
| GAK transcript variant X35 | XM_047450023.1:c.3477= | XM_047450023.1:c.3477G>A |
| GAK transcript variant X36 | XM_047450024.1:c.3465= | XM_047450024.1:c.3465G>A |
| GAK transcript variant X37 | XM_047450025.1:c.3462= | XM_047450025.1:c.3462G>A |
| GAK transcript variant X38 | XM_047450026.1:c.3444= | XM_047450026.1:c.3444G>A |
| GAK transcript variant X39 | XM_047450028.1:c.3432= | XM_047450028.1:c.3432G>A |
| GAK transcript variant X45 | XM_047450034.1:c.3309= | XM_047450034.1:c.3309G>A |
| GAK transcript variant X44 | XM_047450033.1:c.3309= | XM_047450033.1:c.3309G>A |
| GAK transcript variant X40 | XM_047450029.1:c.3387= | XM_047450029.1:c.3387G>A |
| GAK transcript variant X42 | XM_047450031.1:c.3354= | XM_047450031.1:c.3354G>A |
| GAK transcript variant X41 | XM_047450030.1:c.3354= | XM_047450030.1:c.3354G>A |
| GAK transcript variant X43 | XM_047450032.1:c.3342= | XM_047450032.1:c.3342G>A |
| GAK transcript variant X46 | XM_047450035.1:c.3177= | XM_047450035.1:c.3177G>A |
| cyclin-G-associated kinase isoform 1 | NP_005246.2:p.Pro1283= | NP_005246.2:p.Pro1283= |
| cyclin-G-associated kinase isoform X6 | XP_011511731.1:p.Pro1265= | XP_011511731.1:p.Pro1265= |
| cyclin-G-associated kinase isoform X1 | XP_011511727.1:p.Pro1327= | XP_011511727.1:p.Pro1327= |
| cyclin-G-associated kinase isoform X11 | XP_011511734.1:p.Pro1239= | XP_011511734.1:p.Pro1239= |
| cyclin-G-associated kinase isoform X2 | XP_011511728.1:p.Pro1316= | XP_011511728.1:p.Pro1316= |
| cyclin-G-associated kinase isoform X3 | XP_011511729.1:p.Pro1297= | XP_011511729.1:p.Pro1297= |
| cyclin-G-associated kinase isoform X4 | XP_011511730.1:p.Pro1278= | XP_011511730.1:p.Pro1278= |
| cyclin-G-associated kinase isoform X5 | XP_005272325.1:p.Pro1272= | XP_005272325.1:p.Pro1272= |
| cyclin-G-associated kinase isoform X26 | XP_011511736.1:p.Pro1191= | XP_011511736.1:p.Pro1191= |
| cyclin-G-associated kinase isoform X9 | XP_011511733.1:p.Pro1244= | XP_011511733.1:p.Pro1244= |
| cyclin-G-associated kinase isoform X20 | XP_005272327.1:p.Pro1208= | XP_005272327.1:p.Pro1208= |
| cyclin-G-associated kinase isoform X26 | XP_016863482.1:p.Pro1191= | XP_016863482.1:p.Pro1191= |
| cyclin-G-associated kinase isoform X7 | XP_016863480.1:p.Pro1253= | XP_016863480.1:p.Pro1253= |
| cyclin-G-associated kinase isoform X8 | XP_011511732.1:p.Pro1248= | XP_011511732.1:p.Pro1248= |
| cyclin-G-associated kinase isoform X17 | XP_016863481.1:p.Pro1218= | XP_016863481.1:p.Pro1218= |
| cyclin-G-associated kinase isoform 3 | NP_001305063.1:p.Pro1204= | NP_001305063.1:p.Pro1204= |
| cyclin-G-associated kinase isoform X29 | XP_047305976.1:p.Pro1172= | XP_047305976.1:p.Pro1172= |
| cyclin-G-associated kinase isoform X16 | XP_047305964.1:p.Pro1221= | XP_047305964.1:p.Pro1221= |
| cyclin-G-associated kinase isoform X19 | XP_047305967.1:p.Pro1210= | XP_047305967.1:p.Pro1210= |
| cyclin-G-associated kinase isoform X25 | XP_047305972.1:p.Pro1191= | XP_047305972.1:p.Pro1191= |
| cyclin-G-associated kinase isoform X11 | XP_047305959.1:p.Pro1239= | XP_047305959.1:p.Pro1239= |
| cyclin-G-associated kinase isoform X10 | XP_047305958.1:p.Pro1242= | XP_047305958.1:p.Pro1242= |
| cyclin-G-associated kinase isoform X12 | XP_047305960.1:p.Pro1237= | XP_047305960.1:p.Pro1237= |
| cyclin-G-associated kinase isoform X13 | XP_047305961.1:p.Pro1234= | XP_047305961.1:p.Pro1234= |
| cyclin-G-associated kinase isoform X14 | XP_047305962.1:p.Pro1233= | XP_047305962.1:p.Pro1233= |
| cyclin-G-associated kinase isoform X15 | XP_047305963.1:p.Pro1223= | XP_047305963.1:p.Pro1223= |
| cyclin-G-associated kinase isoform X18 | XP_047305966.1:p.Pro1214= | XP_047305966.1:p.Pro1214= |
| cyclin-G-associated kinase isoform X21 | XP_047305968.1:p.Pro1204= | XP_047305968.1:p.Pro1204= |
| cyclin-G-associated kinase isoform X22 | XP_047305969.1:p.Pro1197= | XP_047305969.1:p.Pro1197= |
| cyclin-G-associated kinase isoform X23 | XP_047305970.1:p.Pro1195= | XP_047305970.1:p.Pro1195= |
| cyclin-G-associated kinase isoform X24 | XP_047305971.1:p.Pro1193= | XP_047305971.1:p.Pro1193= |
| cyclin-G-associated kinase isoform X27 | XP_047305974.1:p.Pro1184= | XP_047305974.1:p.Pro1184= |
| cyclin-G-associated kinase isoform X28 | XP_047305975.1:p.Pro1174= | XP_047305975.1:p.Pro1174= |
| cyclin-G-associated kinase isoform X31 | XP_047305977.1:p.Pro1165= | XP_047305977.1:p.Pro1165= |
| cyclin-G-associated kinase isoform X32 | XP_047305978.1:p.Pro1163= | XP_047305978.1:p.Pro1163= |
| cyclin-G-associated kinase isoform X33 | XP_047305979.1:p.Pro1159= | XP_047305979.1:p.Pro1159= |
| cyclin-G-associated kinase isoform X34 | XP_047305980.1:p.Pro1155= | XP_047305980.1:p.Pro1155= |
| cyclin-G-associated kinase isoform X35 | XP_047305981.1:p.Pro1154= | XP_047305981.1:p.Pro1154= |
| cyclin-G-associated kinase isoform X36 | XP_047305982.1:p.Pro1148= | XP_047305982.1:p.Pro1148= |
| cyclin-G-associated kinase isoform X37 | XP_047305984.1:p.Pro1144= | XP_047305984.1:p.Pro1144= |
| cyclin-G-associated kinase isoform X42 | XP_047305990.1:p.Pro1103= | XP_047305990.1:p.Pro1103= |
| cyclin-G-associated kinase isoform X42 | XP_047305989.1:p.Pro1103= | XP_047305989.1:p.Pro1103= |
| cyclin-G-associated kinase isoform X38 | XP_047305985.1:p.Pro1129= | XP_047305985.1:p.Pro1129= |
| cyclin-G-associated kinase isoform X40 | XP_047305987.1:p.Pro1118= | XP_047305987.1:p.Pro1118= |
| cyclin-G-associated kinase isoform X39 | XP_047305986.1:p.Pro1118= | XP_047305986.1:p.Pro1118= |
| cyclin-G-associated kinase isoform X41 | XP_047305988.1:p.Pro1114= | XP_047305988.1:p.Pro1114= |
| cyclin-G-associated kinase isoform X43 | XP_047305991.1:p.Pro1059= | XP_047305991.1:p.Pro1059= |
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#.
13 SubSNP,
10 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | 1000GENOMES | ss488778901 | May 04, 2012 (137) |
| 2 | NHLBI-ESP | ss712576396 | Apr 25, 2013 (138) |
| 3 | EVA-GONL | ss979665794 | Aug 21, 2014 (142) |
| 4 | 1000GENOMES | ss1308059615 | Aug 21, 2014 (142) |
| 5 | HUMAN_LONGEVITY | ss2259764442 | Dec 20, 2016 (150) |
| 6 | EVA | ss3761275291 | Jul 13, 2019 (153) |
| 7 | EVA | ss3823991388 | Apr 25, 2020 (154) |
| 8 | GNOMAD | ss4089143885 | Apr 26, 2021 (155) |
| 9 | TOPMED | ss4599943309 | Apr 26, 2021 (155) |
| 10 | EVA | ss5346324840 | Oct 17, 2022 (156) |
| 11 | 1000G_HIGH_COVERAGE | ss5538003540 | Oct 17, 2022 (156) |
| 12 | TOMMO_GENOMICS | ss5697303766 | Oct 17, 2022 (156) |
| 13 | EVA | ss5861787401 | Oct 17, 2022 (156) |
| 14 | 1000Genomes | NC_000004.11 - 843548 | Oct 12, 2018 (152) |
| 15 | 1000Genomes_30x | NC_000004.12 - 849760 | Oct 17, 2022 (156) |
| 16 | ExAC | NC_000004.11 - 843548 | Oct 12, 2018 (152) |
| 17 | gnomAD - Genomes | NC_000004.12 - 849760 | Apr 26, 2021 (155) |
| 18 | gnomAD - Exomes | NC_000004.11 - 843548 | Jul 13, 2019 (153) |
| 19 | GO Exome Sequencing Project | NC_000004.11 - 843548 | Oct 12, 2018 (152) |
| 20 | Genome of the Netherlands Release 5 | NC_000004.11 - 843548 | Apr 25, 2020 (154) |
| 21 | 14KJPN | NC_000004.12 - 849760 | Oct 17, 2022 (156) |
| 22 | TopMed | NC_000004.12 - 849760 | Apr 26, 2021 (155) |
| 23 | ALFA | NC_000004.12 - 849760 | Apr 26, 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 19396662, 7332543, 3427624, 449649, 4753097, ss488778901, ss712576396, ss979665794, ss1308059615, ss3761275291, ss3823991388, ss5346324840 | NC_000004.11:843547:C:T | NC_000004.12:849759:C:T | (self) |
| 25529475, 137703498, 31140870, 437320865, 12174202132, ss2259764442, ss4089143885, ss4599943309, ss5538003540, ss5697303766, ss5861787401 | NC_000004.12:849759:C:T | NC_000004.12:849759: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 rs200047571
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
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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.
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.