Product Details

SNP ID

rs201312283

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24506081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCCCACACACAGCTGAAGATTGT[A/G]GTCAAAGTCTCTGAAGTGGCTGCAG

Phenotype

MIM: 118938

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CMA1 PubMed Links

Gene Details

Gene

CMA1

Gene Name

chymase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308083.1	426	Missense Mutation	CAC,TAC	H72Y	NP_001295012.1
NM_001836.4	426	Missense Mutation	CAC,TAC	H183Y	NP_001827.1

Gene

LOC101927045

Gene Name

uncharacterized LOC101927045

There are no transcripts associated with this gene.

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