Product Details

SNP ID

rs145971844

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:77919055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATGATAATAACTGCCTCGTCTAA[C/T]TCATAGGTTTTTATCAGTATCAAGT

Phenotype

MIM: 300011

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		Intron			NP_000043.4
NM_001282224.1		Intron			NP_001269153.1

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