Product Details

SNP ID

rs189601972

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:51934941 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCCCGCCACCTGTCATCCATGC[C/T]TATGTGCACACTGACCTGGGATGCC

Phenotype

MIM: 606882

Polymorphism

C/T, Transition 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	3749	Missense Mutation	AGC,GGC	S1405G	NP_000044.2
NM_001005918.2	3749	Missense Mutation	AGC,GGC	S1198G	NP_001005918.1
NM_001243182.1	3749	Missense Mutation	AGC,GGC	S1294G	NP_001230111.1
XM_005266423.2	3749	Missense Mutation	AGC,GGC	S1373G	XP_005266480.1
XM_005266424.4	3749	Missense Mutation	AGC,GGC	S1373G	XP_005266481.1
XM_005266427.2	3749	Missense Mutation	AGC,GGC	S1327G	XP_005266484.1
XM_005266428.1	3749	Missense Mutation	AGC,GGC	S1321G	XP_005266485.1
XM_005266430.4	3749	Missense Mutation	AGC,GGC	S1405G	XP_005266487.1
XM_005266431.3	3749	Missense Mutation	AGC,GGC	S1393G	XP_005266488.1
XM_005266432.2	3749	Missense Mutation	AGC,GGC	S1243G	XP_005266489.1
XM_006719837.3	3749	Missense Mutation	AGC,GGC	S1373G	XP_006719900.1
XM_006719838.1	3749	Missense Mutation	AGC,GGC	S677G	XP_006719901.1
XM_006719839.1	3749	Missense Mutation	AGC,GGC	S616G	XP_006719902.1
XM_011535117.2	3749	Missense Mutation	AGC,GGC	S1373G	XP_011533419.1
XM_011535118.1	3749	Missense Mutation	AGC,GGC	S1360G	XP_011533420.1
XM_011535119.1	3749	Missense Mutation	AGC,GGC	S1344G	XP_011533421.1
XM_011535122.2	3749	Missense Mutation	AGC,GGC	S961G	XP_011533424.1
XM_017020627.1	3749	Missense Mutation	AGC,GGC	S1373G	XP_016876116.1
XM_017020628.1	3749	Missense Mutation	AGC,GGC	S961G	XP_016876117.1

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