Product Details

SNP ID
rs201480145
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35626730 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTGACATGGGCAGGTTCGAGGCA[C/T]GCACCACAGCCTCACGTGTGGCTTC
Phenotype
MIM: 604205 MIM: 603038
Polymorphism
C/T, 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 1507 Missense Mutation CAT,CGT H436R NP_001185792.1
NM_003915.5 1507 Missense Mutation CAT,CGT H442R NP_003906.2
NM_152925.2 1507 Missense Mutation CAT,CGT H437R NP_690902.1
NM_152926.2 1507 Missense Mutation CAT,CGT H437R NP_690903.1
NM_152927.2 1507 Missense Mutation CAT,CGT H437R NP_690904.1
NM_152928.2 1507 Missense Mutation CAT,CGT H437R NP_690905.1
Gene
SPAG4
Gene Name
sperm associated antigen 4
There are no transcripts associated with this gene.

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