Product Details

SNP ID
rs145865814
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:203217046 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGCCCTGGCAGAACGTGTCTTGT[C/T]CAGGGCTGGGGCCATGCTCAGGTTC
Phenotype
MIM: 600031
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHIT1 PubMed Links

Gene Details

Gene
CHIT1
Gene Name
chitinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256125.1 1283 Missense Mutation GAA,GGA E396G NP_001243054.2
NM_001270509.1 1283 Missense Mutation GAA,GGA E370G NP_001257438.1
NM_003465.2 1283 Missense Mutation GAA,GGA E415G NP_003456.1

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