Product Details

SNP ID

rs138110777

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24573749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTTCTGGAGGAACCCCTGACGAC[C/T]TTCCATAGGAGACGATGCCGTGGGC

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	693	Missense Mutation	AAG,AGG	K219R	NP_001902.1
XM_011536499.1	693	Missense Mutation	AAG,AGG	K233R	XP_011534801.1

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