Product Details

SNP ID

rs149839360

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:24428869 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATGTTTTTGAACCTGCATTGTAG[G/T]TGATGCTGCCGAATGAATACCCAGG

Phenotype

MIM: 615319

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

IMPACT PubMed Links

Gene Details

Gene

IMPACT

Gene Name

impact RWD domain protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018439.3	278	Missense Mutation	GTG,TTG	V56L	NP_060909.1
XM_017025832.1	278	Missense Mutation	GTG,TTG	V38L	XP_016881321.1

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