Product Details

SNP ID
rs200217461
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:186228217 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGAATGATTTTATTCAAGCAAGCA[A/C]CTTATTTCATTTCCTTGTTTGCTAC
Phenotype
MIM: 229000
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KLKB1 PubMed Links

Gene Details

Gene
KLKB1
Gene Name
kallikrein B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000892.4 93 Missense Mutation ACT,CCT T8P NP_000883.2
NM_001318394.1 93 Intron NP_001305323.1
NM_001318396.1 93 UTR 5 NP_001305325.1
XM_011531930.2 93 Missense Mutation ACT,CCT T8P XP_011530232.1
XM_017008181.1 93 Missense Mutation ACT,CCT T8P XP_016863670.1
XM_017008182.1 93 Missense Mutation ACT,CCT T8P XP_016863671.1
XM_017008183.1 93 Missense Mutation ACT,CCT T8P XP_016863672.1
XM_017008184.1 93 Intron XP_016863673.1

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