Product Details

SNP ID

rs150812789

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:40978955 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTTCTCCAGGTTATCGATCAGAC[A/G]CTGAATTTGGGCCAGCTGGGAGCTG

Phenotype

MIM: 616679

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

KRT40 PubMed Links

Additional Information

For this assay, SNP(s) [rs8064910] are located under a probe 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

KRT40

Gene Name

keratin 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182497.3	1206	Missense Mutation	CGT,TGT	R349C	NP_872303.2
XM_011524339.2	1206	Intron			XP_011522641.2
XM_017024189.1	1206	Missense Mutation	CGT,TGT	R402C	XP_016879678.1

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