Product Details

SNP ID
rs140013823
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:61403186 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCGGAGACCGACTTCATCGCCGT[C/T]ACTGCCTACCAGAATGACAAGGTGC
Phenotype
MIM: 600747
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C17orf82 PubMed Links

Gene Details

Gene
C17orf82
Gene Name
chromosome 17 open reading frame 82
There are no transcripts associated with this gene.

Gene
TBX2
Gene Name
T-box 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005994.3 1070 Silent Mutation GTC,GTT V263V NP_005985.3
XM_011525159.1 1070 Silent Mutation GTC,GTT V37V XP_011523461.1
Gene
TBX2-AS1
Gene Name
TBX2 antisense RNA 1
There are no transcripts associated with this gene.

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