Product Details

SNP ID

rs146340487

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:152759616 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTGACCAGCAGCAGATCCAGTGC[C/T]GCCTGCCGCTCCAACAGTGCTGCGT

Phenotype

MIM: 613260

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KPRP PubMed Links

Gene Details

Gene

KPRP

Gene Name

keratinocyte proline rich protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001025231.1	127	Missense Mutation	CGC,TGC	R10C	NP_001020402.1
XM_011509571.1	127	Missense Mutation	CGC,TGC	R10C	XP_011507873.1

View Full Product Details