Product Details

SNP ID
rs199665312
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:101476059 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGGACAGGTAGGTGAGGGTCCGG[C/T]GGGCCGCAGGTGCCGGGAAGAGCAT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TMEM246 PubMed Links

Gene Details

Gene
TMEM246
Gene Name
transmembrane protein 246
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303107.1 1384 Missense Mutation CAC,CGC H345R NP_001290036.1
NM_001303108.1 1384 Missense Mutation CAC,CGC H345R NP_001290037.1
NM_032342.2 1384 Missense Mutation CAC,CGC H345R NP_115718.1
XM_017015206.1 1384 Missense Mutation CAC,CGC H345R XP_016870695.1
Gene
TMEM246-AS1
Gene Name
TMEM246 antisense RNA 1
There are no transcripts associated with this gene.

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