Product Details

SNP ID

rs192149727

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:151282275 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGTACCAAGATACAACGGCAGAC[A/G]TCGCCTTGTTGAAACTGTCCTCTCA

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PRSS48 PubMed Links

Gene Details

Gene

PRSS48

Gene Name

protease, serine 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_183375.2	789	Missense Mutation	ATC,GTC	I115V	NP_899231.2
XM_011531921.2	789	Missense Mutation	ATC,GTC	I138V	XP_011530223.1
XM_011531922.2	789	Intron			XP_011530224.1

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