Product Details

SNP ID

rs202131204

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:51934766 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGCCTGAAGTCATCAGATGTAC[G/T]GCTCCTCATCCCTGCCATTCAGGAG

Phenotype

MIM: 606882

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ATP7B PubMed Links

Gene Details

Gene

ATP7B

Gene Name

ATPase copper transporting beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000053.3	3924	Missense Mutation	CAG,CCG	Q1463P	NP_000044.2
NM_001005918.2	3924	Missense Mutation	CAG,CCG	Q1256P	NP_001005918.1
NM_001243182.1	3924	Missense Mutation	CAG,CCG	Q1352P	NP_001230111.1
XM_005266423.2	3924	Missense Mutation	CAG,CCG	Q1431P	XP_005266480.1
XM_005266424.4	3924	Missense Mutation	CAG,CCG	Q1431P	XP_005266481.1
XM_005266427.2	3924	Missense Mutation	CAG,CCG	Q1385P	XP_005266484.1
XM_005266428.1	3924	Missense Mutation	CAG,CCG	Q1379P	XP_005266485.1
XM_005266430.4	3924	Missense Mutation	CAG,CCG	Q1463P	XP_005266487.1
XM_005266431.3	3924	Missense Mutation	CAG,CCG	Q1451P	XP_005266488.1
XM_005266432.2	3924	Missense Mutation	CAG,CCG	Q1301P	XP_005266489.1
XM_006719837.3	3924	Missense Mutation	CAG,CCG	Q1431P	XP_006719900.1
XM_006719838.1	3924	Missense Mutation	CAG,CCG	Q735P	XP_006719901.1
XM_006719839.1	3924	Missense Mutation	CAG,CCG	Q674P	XP_006719902.1
XM_011535117.2	3924	Missense Mutation	CAG,CCG	Q1431P	XP_011533419.1
XM_011535118.1	3924	Missense Mutation	CAG,CCG	Q1418P	XP_011533420.1
XM_011535119.1	3924	Missense Mutation	CAG,CCG	Q1402P	XP_011533421.1
XM_011535122.2	3924	Missense Mutation	CAG,CCG	Q1019P	XP_011533424.1
XM_017020627.1	3924	Missense Mutation	CAG,CCG	Q1431P	XP_016876116.1
XM_017020628.1	3924	Missense Mutation	CAG,CCG	Q1019P	XP_016876117.1

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