Product Details

SNP ID
rs114905769
Assay Type
Functionally tested
NCBI dbSNP Submissions
21
Location
Chr.1:152759890 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGTGAAGGGCCAGGCTGCATCCC[A/C]ATCTCAAACTTCCTCTGTTCAAAGC
Phenotype
MIM: 613260
Polymorphism
A/C, Transversion 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_001025231.1 401 Missense Mutation CAA,CCA Q101P NP_001020402.1
XM_011509571.1 401 Missense Mutation CAA,CCA Q101P XP_011507873.1

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