Product Details

SNP ID
rs200256772
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:41808943 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTTGTCCTGCTTTTGTCTGGGA[C/T]GGGAGCCACAGGCACCTTGAGGACC
Phenotype
MIM: 608797
Polymorphism
C/T, Transition 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_001304797.1 304 Missense Mutation ACG,ATG T18M NP_001291726.1
NM_024821.3 304 Missense Mutation ACG,ATG T18M NP_079097.1
XM_005261748.3 304 Missense Mutation ACG,ATG T18M 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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