Product Details

SNP ID

rs145406974

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:77971698 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATTTCTGTTGAGGGTATGACTTG[C/T]AATTCCTGTGTTTGGACCATTGAGC

Phenotype

MIM: 300011 MIM: 300567

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP7A PubMed Links

Gene Details

Gene

ATP7A

Gene Name

ATPase copper transporting alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000052.6	258	Silent Mutation	TGC,TGT	C19C	NP_000043.4
NM_001282224.1	258	Silent Mutation	TGC,TGT	C19C	NP_001269153.1

Gene

PGAM4

Gene Name

phosphoglycerate mutase family member 4

There are no transcripts associated with this gene.

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