Product Details

SNP ID
rs201313181
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:203179492 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGATGGCATTGGTGAGAGGGAAGC[C/G]CAGATCCTGGCCACAGAAGGAGCCC
Phenotype
MIM: 601525 MIM: 160795
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CHI3L1 PubMed Links

Gene Details

Gene
CHI3L1
Gene Name
chitinase 3 like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001276.2 1276 Missense Mutation CGC,GGC R369G NP_001267.2
Gene
MYBPH
Gene Name
myosin binding protein H
There are no transcripts associated with this gene.

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