Product Details

SNP ID
rs117734748
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:57744029 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACCTACAAAGAGCCAGGGTACAC[C/T]TGCCTCTTGTGCTGAGGGCACGTGC
Phenotype
MIM: 607914 MIM: 616715
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BTBD18 PubMed Links

Gene Details

Gene
BTBD18
Gene Name
BTB domain containing 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145101.1 3792 UTR 3 NP_001138573.1
XM_011545212.2 3792 UTR 3 XP_011543514.1
XM_017018127.1 3792 UTR 3 XP_016873616.1
XM_017018128.1 3792 UTR 3 XP_016873617.1
Gene
C11orf31
Gene Name
chromosome 11 open reading frame 31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321335.1 3792 Intron NP_001308264.1
NM_170746.3 3792 Intron NP_734467.1
Gene
TMX2
Gene Name
thioredoxin related transmembrane protein 2
There are no transcripts associated with this gene.

Gene
TMX2-CTNND1
Gene Name
TMX2-CTNND1 readthrough (NMD candidate)
There are no transcripts associated with this gene.

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