Product Details

SNP ID

rs199536952

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:15466137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGGGGTGATGGCGTGATCTCCA[C/G]CTGCAACGTGAGTACCAAAATCAGG

Phenotype

MIM: 609443 MIM: 609444

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CELA2A PubMed Links

Gene Details

Gene

CELA2A

Gene Name

chymotrypsin like elastase family member 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033440.2	658	Missense Mutation	ACC,AGC	T211S	NP_254275.1

Gene

CELA2B

Gene Name

chymotrypsin like elastase family member 2B

There are no transcripts associated with this gene.

View Full Product Details