Product Details

SNP ID
rs78427006
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35619246 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCACGATTACGCAGACAGGAACA[C/T]TGCCTACTTCTGGAATCGCTTCAGC
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
There are no transcripts associated with this gene.

Gene
SPAG4
Gene Name
sperm associated antigen 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317931.1 611 Missense Mutation ACT,ATT T205I NP_001304860.1
NM_003116.2 611 Missense Mutation ACT,ATT T282I NP_003107.1
XM_005260520.4 611 Missense Mutation ACT,ATT T189I XP_005260577.1
XM_011529009.2 611 Missense Mutation ACT,ATT T238I XP_011527311.1

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