Product Details

SNP ID
rs144375623
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41808942 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTTTGTCCTGCTTTTGTCTGGG[A/T]TGGGAGCCACAGGCACCTTGAGGAC
Phenotype
MIM: 608797
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CCDC134 PubMed Links

Gene Details

Gene
CCDC134
Gene Name
coiled-coil domain containing 134
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304797.1 303 Missense Mutation ATG,TTG M18L NP_001291726.1
NM_024821.3 303 Missense Mutation ATG,TTG M18L NP_079097.1
XM_005261748.3 303 Missense Mutation ATG,TTG M18L XP_005261805.1
Gene
MEI1
Gene Name
meiotic double-stranded break formation protein 1
There are no transcripts associated with this gene.

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