Product Details

SNP ID

rs145069695

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:849738 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCGTCATTCAGCTCCATGAAGA[C/T]CATCTTGGCGTGCTGCTCGTACGGC

Phenotype

MIM: 602052

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GAK PubMed Links

Gene Details

Gene

GAK

Gene Name

cyclin G associated kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318134.1	4146	Missense Mutation	ATC,GTC	I1212V	NP_001305063.1
NM_005255.3	4146	Missense Mutation	ATC,GTC	I1291V	NP_005246.2
XM_005272268.2	4146	Missense Mutation	ATC,GTC	I1280V	XP_005272325.1
XM_005272270.2	4146	Missense Mutation	ATC,GTC	I1216V	XP_005272327.1
XM_011513425.2	4146	Missense Mutation	ATC,GTC	I1335V	XP_011511727.1
XM_011513426.2	4146	Missense Mutation	ATC,GTC	I1324V	XP_011511728.1
XM_011513427.2	4146	Missense Mutation	ATC,GTC	I1305V	XP_011511729.1
XM_011513428.2	4146	Missense Mutation	ATC,GTC	I1286V	XP_011511730.1
XM_011513429.2	4146	Missense Mutation	ATC,GTC	I1273V	XP_011511731.1
XM_011513430.1	4146	Missense Mutation	ATC,GTC	I1256V	XP_011511732.1
XM_011513431.2	4146	Missense Mutation	ATC,GTC	I1252V	XP_011511733.1
XM_011513432.2	4146	Missense Mutation	ATC,GTC	I1247V	XP_011511734.1
XM_011513434.2	4146	Missense Mutation	ATC,GTC	I1199V	XP_011511736.1
XM_017007991.1	4146	Missense Mutation	ATC,GTC	I1261V	XP_016863480.1
XM_017007992.1	4146	Missense Mutation	ATC,GTC	I1226V	XP_016863481.1
XM_017007993.1	4146	Missense Mutation	ATC,GTC	I1199V	XP_016863482.1
XM_017007994.1	4146	Intron			XP_016863483.1
XM_017007995.1	4146	Missense Mutation	ATC,GTC	I1111V	XP_016863484.1

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