Product Details

SNP ID

rs200157036

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35626763 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCTCACGTGTGGCTTCCACATCC[A/G]TCACAGCACCATCAGTCAGCAGCAA

Phenotype

MIM: 604205 MIM: 603038

Polymorphism

A/G, Transition 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	1474	Missense Mutation	ACG,ATG	T425M	NP_001185792.1
NM_003915.5	1474	Missense Mutation	ACG,ATG	T431M	NP_003906.2
NM_152925.2	1474	Missense Mutation	ACG,ATG	T426M	NP_690902.1
NM_152926.2	1474	Missense Mutation	ACG,ATG	T426M	NP_690903.1
NM_152927.2	1474	Missense Mutation	ACG,ATG	T426M	NP_690904.1
NM_152928.2	1474	Missense Mutation	ACG,ATG	T426M	NP_690905.1

Gene

SPAG4

Gene Name

sperm associated antigen 4

There are no transcripts associated with this gene.

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