Product Details

SNP ID

rs200652644

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2794348 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCAAAGGTGACCCGACAGTTCC[A/G]TGTCACTGAATGGTAGCCCTCGGCA

Phenotype

MIM: 609555

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CPXM1 PubMed Links

Gene Details

Gene

CPXM1

Gene Name

carboxypeptidase X (M14 family), member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184699.1	1899	Missense Mutation	CGG,TGG	R609W	NP_001171628.1
NM_019609.4	1899	Missense Mutation	CGG,TGG	R683W	NP_062555.1

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