Product Details

SNP ID

rs78247007

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:15440505 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCTCCTGCAGATCTCCCTCCAG[C/T]ACCTCAAGAACGACACGTGGAGGCA

Phenotype

MIM: 601405

Polymorphism

C/T, Transition 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	168	Missense Mutation	CAC,TAC	H49Y	NP_009203.2
XM_011540550.1	168	Missense Mutation	CAC,TAC	H49Y	XP_011538852.1

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