Product Details

SNP ID

rs146166184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24574749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCGGATGGCTCTGCGCGCAGTGA[C/T]GTGTTGCTGGGTGTTTTCCCGTCTC

Phenotype

MIM: 116830

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTSG PubMed Links

Gene Details

Gene

CTSG

Gene Name

cathepsin G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001911.2	302	Missense Mutation	ATC,GTC	I89V	NP_001902.1
XM_011536499.1	302	Missense Mutation	ATC,GTC	I103V	XP_011534801.1

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