Product Details

SNP ID

rs148778899

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:96193097 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATACCGCGACACCAACACCATCA[C/T]GTTGTTTTCCTGATCCACACTATAC

Phenotype

MIM: 616712

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

STARD7 PubMed Links

Gene Details

Gene

STARD7

Gene Name

StAR related lipid transfer domain containing 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020151.3	1125	Missense Mutation	ATG,GTG	M242V	NP_064536.2
XM_011511499.1	1125	Missense Mutation	ATG,GTG	M141V	XP_011509801.1

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