Product Details

SNP ID

rs187130387

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:24428878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAACCTGCATTGTAGGTGATGCTG[C/T]CGAATGAATACCCAGGTACAGCTCC

Phenotype

MIM: 615319

Polymorphism

C/T, Transition 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	287	Missense Mutation	CCG,TCG	P59S	NP_060909.1
XM_017025832.1	287	Missense Mutation	CCG,TCG	P41S	XP_016881321.1

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