Product Details

SNP ID

rs142770190

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35626296 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGAGGGTGGAAGTGGCTTGAGC[C/G]GGGCCCAACCCTGGGCCCTGAAGTA

Phenotype

MIM: 604205 MIM: 603038

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CPNE1 PubMed Links

Gene Details

Gene

CPNE1

Gene Name

copine 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198863.1	1756	Missense Mutation	CCG,CGG	P519R	NP_001185792.1
NM_003915.5	1756	Missense Mutation	CCG,CGG	P525R	NP_003906.2
NM_152925.2	1756	Missense Mutation	CCG,CGG	P520R	NP_690902.1
NM_152926.2	1756	Missense Mutation	CCG,CGG	P520R	NP_690903.1
NM_152927.2	1756	Missense Mutation	CCG,CGG	P520R	NP_690904.1
NM_152928.2	1756	Missense Mutation	CCG,CGG	P520R	NP_690905.1

Gene

SPAG4

Gene Name

sperm associated antigen 4

There are no transcripts associated with this gene.

View Full Product Details