Product Details

SNP ID

rs147803387

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:15443467 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCAGAGCATGTGGAGCTGAGTGA[C/G]ACCATCCAGGTGGCCTGCCTGCCAG

Phenotype

MIM: 601405

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CTRC PubMed Links

Gene Details

Gene

CTRC

Gene Name

chymotrypsin C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007272.2	428	Missense Mutation	GAC,GAG	D135E	NP_009203.2
XM_011540550.1	428	Missense Mutation	GAC,GAG	D135E	XP_011538852.1

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