Product Details

SNP ID

rs147712053

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:79363133 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAAGCACATCTCTCCACGGTAAA[C/T]GGTGCTCTAAAAGACAAAAAGGGAA

Phenotype

MIM: 300222

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ITM2A PubMed Links

Gene Details

Gene

ITM2A

Gene Name

integral membrane protein 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171581.1	587	Missense Mutation	ATT,GTT	I40V	NP_001165052.1
NM_004867.4	587	Missense Mutation	ATT,GTT	I84V	NP_004858.1

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