Product Details

SNP ID

rs146668963

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:24430351 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGGCTTAAAGGGCAAGAACGTG[C/T]GGATTTATCAAATAGCCTTGAGGAA

Phenotype

MIM: 615319

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

IMPACT PubMed Links

Additional Information

For this assay, SNP(s) [rs9783924] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	360	Missense Mutation	GCG,GTG	A83V	NP_060909.1
XM_017025832.1	360	Missense Mutation	GCG,GTG	A65V	XP_016881321.1

View Full Product Details