Product Details

SNP ID

rs189197057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:100339204 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGGAGCCAAAATAGTTTCTTTGC[C/T]GGTCAGTATGGGAGCAGCCATTCTG

Phenotype

MIM: 616769

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NIT2 PubMed Links

Gene Details

Gene

NIT2

Gene Name

nitrilase family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020202.4	199	Missense Mutation	CCG,CTG	P42L	NP_064587.1

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