Product Details

SNP ID
rs147807095
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:152759640 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCCTGCCGCTCCAACAGTGCTGC[A/G]TCAAGGGTCCCTCCTTCTGCTCCTC
Phenotype
MIM: 613260
Polymorphism
A/G, 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_001025231.1 151 Missense Mutation ATC,GTC I18V NP_001020402.1
XM_011509571.1 151 Missense Mutation ATC,GTC I18V XP_011507873.1

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