Product Details

SNP ID

rs182093647

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31083794 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGAATGGCCAGGTCCCCTGTCAG[C/T]AGCTGGTTGGTTGGCCTGTGGGGAA

Phenotype

MIM: 610561 MIM: 608547

Polymorphism

C/T, 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	2667	Missense Mutation	TAC,TGC	Y553C	NP_001034592.1
XM_011545816.1	2667	Missense Mutation	ACT,GCT	T528A	XP_011544118.1
XM_011545817.1	2667	UTR 3			XP_011544119.1
XM_011545818.2	2667	Missense Mutation	TAC,TGC	Y600C	XP_011544120.1
XM_011545819.1	2667	Missense Mutation	ACT,GCT	T481A	XP_011544121.1
XM_011545820.1	2667	UTR 3			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014699.3	2667	Intron			NP_055514.3
XM_005255710.3	2667	Intron			XP_005255767.1
XM_005255711.3	2667	Intron			XP_005255768.1
XM_005255712.3	2667	Intron			XP_005255769.1
XM_011545990.2	2667	Intron			XP_011544292.1

Gene

ZNF668

Gene Name

zinc finger protein 668

There are no transcripts associated with this gene.

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