Product Details

SNP ID
rs143415385
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:101476185 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCCGACCCACCAGCTCCACCAGA[A/C]CCATGCTATACAGGGAGAAGAAGAG
Phenotype
Polymorphism
A/C, Transversion 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 1258 Missense Mutation GGT,GTT G303V NP_001290036.1
NM_001303108.1 1258 Missense Mutation GGT,GTT G303V NP_001290037.1
NM_032342.2 1258 Missense Mutation GGT,GTT G303V NP_115718.1
XM_017015206.1 1258 Missense Mutation GGT,GTT G303V XP_016870695.1
Gene
TMEM246-AS1
Gene Name
TMEM246 antisense RNA 1
There are no transcripts associated with this gene.

View Full Product Details