Product Details

SNP ID
rs142416632
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:17138338 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTGGAACAGGTTGGCGCCGTATA[C/T]GTCAGACATAGGGTTATCACTGGCA
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CECR5 PubMed Links

Gene Details

Gene
CECR5
Gene Name
cat eye syndrome chromosome region, candidate 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017829.5 1450 Missense Mutation ATA,GTA I289V NP_060299.4
NM_033070.2 1450 Missense Mutation ATA,GTA I319V NP_149061.1
XM_005261236.3 1450 Missense Mutation ATA,GTA I158V XP_005261293.1
XM_011546126.2 1450 Missense Mutation ATA,GTA I251V XP_011544428.1
XM_011546127.1 1450 Missense Mutation ATA,GTA I197V XP_011544429.1
XM_017028781.1 1450 Missense Mutation ATA,GTA I158V XP_016884270.1
XM_017028782.1 1450 Missense Mutation ATA,GTA I130V XP_016884271.1
XM_017028783.1 1450 Missense Mutation ATA,GTA I130V XP_016884272.1
XM_017028784.1 1450 Missense Mutation ATA,GTA I130V XP_016884273.1
Gene
LOC100996342
Gene Name
uncharacterized LOC100996342
There are no transcripts associated with this gene.

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