Product Details

SNP ID
rs147135745
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31086081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGCAGCTGTGTTGGTCAGCAGCA[C/G]AGGAGCGTCCTCCTGGGCACAGCTT
Phenotype
MIM: 610561 MIM: 608547
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PRSS53 PubMed Links

Gene Details

Gene
PRSS53
Gene Name
protease, serine 53
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039503.2 1992 Missense Mutation CTG,GTG L256V NP_001034592.1
XM_011545816.1 1992 Missense Mutation CTG,GTG L303V XP_011544118.1
XM_011545817.1 1992 Missense Mutation CTG,GTG L303V XP_011544119.1
XM_011545818.2 1992 Missense Mutation CTG,GTG L303V XP_011544120.1
XM_011545819.1 1992 Missense Mutation CTG,GTG L256V XP_011544121.1
XM_011545820.1 1992 Missense Mutation CTG,GTG L256V XP_011544122.1
Gene
VKORC1
Gene Name
vitamin K epoxide reductase complex subunit 1
There are no transcripts associated with this gene.

Gene
ZNF646
Gene Name
zinc finger protein 646
There are no transcripts associated with this gene.

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