Product Details

SNP ID
rs139103323
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:17138075 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACCAGCTGCACAGCCTCATTCAC[A/G]TCATTCACCACGTGGGAGGCCTCCA
Phenotype
Polymorphism
A/G, 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 1713 Silent Mutation GAC,GAT D376D NP_060299.4
NM_033070.2 1713 Silent Mutation GAC,GAT D406D NP_149061.1
XM_005261236.3 1713 Silent Mutation GAC,GAT D245D XP_005261293.1
XM_011546126.2 1713 Silent Mutation GAC,GAT D338D XP_011544428.1
XM_011546127.1 1713 Silent Mutation GAC,GAT D284D XP_011544429.1
XM_017028781.1 1713 Silent Mutation GAC,GAT D245D XP_016884270.1
XM_017028782.1 1713 Silent Mutation GAC,GAT D217D XP_016884271.1
XM_017028783.1 1713 Silent Mutation GAC,GAT D217D XP_016884272.1
XM_017028784.1 1713 Silent Mutation GAC,GAT D217D XP_016884273.1
Gene
LOC100996342
Gene Name
uncharacterized LOC100996342
There are no transcripts associated with this gene.

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