Product Details

SNP ID

rs200191564

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:129074042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGCGGTGAAGGTGGTAAATTTTA[C/T]CCTTTTCCTTTTTGAGGTAGGGGAT

Phenotype

MIM: 611257

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TMEM132D PubMed Links

Gene Details

Gene

TMEM132D

Gene Name

transmembrane protein 132D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_133448.2	3461	Missense Mutation	ATA,GTA	I1045V	NP_597705.2

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