Product Details

SNP ID
rs201095649
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31085993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCTGTCCTCATCACTCATCTCC[A/G]GGGTCTCTGGGCTCTGGGCCAGGAA
Phenotype
MIM: 610561 MIM: 608547
Polymorphism
A/G, Transition 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 2080 Missense Mutation CCG,CTG P285L NP_001034592.1
XM_011545816.1 2080 Missense Mutation CCG,CTG P332L XP_011544118.1
XM_011545817.1 2080 Missense Mutation CCG,CTG P332L XP_011544119.1
XM_011545818.2 2080 Missense Mutation CCG,CTG P332L XP_011544120.1
XM_011545819.1 2080 Missense Mutation CCG,CTG P285L XP_011544121.1
XM_011545820.1 2080 Missense Mutation CCG,CTG P285L 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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