Product Details

SNP ID
rs139575737
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50943672 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGTTTCCTGGATCCACTTGGTGA[A/G]CTTGCAGAGGTTCGTGTAGACACCC
Phenotype
MIM: 605643
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KLK5 PubMed Links

Gene Details

Gene
KLK5
Gene Name
kallikrein related peptidase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077491.1 1013 Missense Mutation CTC,TTC L281F NP_001070959.1
NM_001077492.1 1013 Missense Mutation CTC,TTC L281F NP_001070960.1
NM_012427.4 1013 Missense Mutation CTC,TTC L281F NP_036559.1
XM_011526702.1 1013 Missense Mutation CTC,TTC L281F XP_011525004.1
XM_011526703.2 1013 Missense Mutation CTC,TTC L281F XP_011525005.1

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