Product Details

SNP ID

hCV11698022

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.13:51935599 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TCCACCTGAGGGGACTCACCACTTG[A/G]GCTGCAGGGATGAGAGCACCACAGA

Phenotype

MIM: 606882

Polymorphism

A/G, 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	3654	Missense Mutation	CCC,CTC	P1373L	NP_000044.2
NM_001005918.2	3654	Missense Mutation	CCC,CTC	P1166L	NP_001005918.1
NM_001243182.1	3654	Missense Mutation	CCC,CTC	P1262L	NP_001230111.1

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