Product Details

SNP ID

rs142178236

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:203179787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCTTTTGACGCTTTCCTGGTCGT[C/T]GTATCCTACCCACTGGTTGCCCTTG

Phenotype

MIM: 601525 MIM: 160795

Polymorphism

C/T, Transition 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	1156	Missense Mutation	AAC,GAC	N329D	NP_001267.2

Gene

MYBPH

Gene Name

myosin binding protein H

There are no transcripts associated with this gene.

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