Product Details

SNP ID

rs199724044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30881473 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTGGGCCACTGGAACAATGCAGC[A/G]TCCTCCAATGGGCCTGGAAGAGCAA

Phenotype

MIM: 600064

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KRTAP11-1 PubMed Links

Gene Details

Gene

KRTAP11-1

Gene Name

keratin associated protein 11-1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175858.2	83	Missense Mutation	CGC,TGC	R18C	NP_787054.1

View Full Product Details