Product Details

SNP ID

rs200576965

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:15440311 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGTCTCCCCAGCCTCCAGCTGT[A/G]GGGTGCCCAGCTTCCCGCCCAACCT

Phenotype

MIM: 601405 MIM: 616450

Polymorphism

A/G, 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	75	Missense Mutation	AGG,GGG	R18G	NP_009203.2
XM_011540550.1	75	Missense Mutation	AGG,GGG	R18G	XP_011538852.1

Gene

EFHD2

Gene Name

EF-hand domain family member D2

There are no transcripts associated with this gene.

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