Product Details

SNP ID

rs143135336

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2794369 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGTGTCACTGAATGGTAGCCCT[C/T]GGCACTGGCAGTCACCATGTAGTCC

Phenotype

MIM: 609555

Polymorphism

C/T, 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	1878	Missense Mutation	AAG,GAG	K602E	NP_001171628.1
NM_019609.4	1878	Missense Mutation	AAG,GAG	K676E	NP_062555.1

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