Product Details

SNP ID
rs113690639
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:101475987 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCCTCTCTCCCTTGGCCCTCAAC[A/G]GCGAGTACAGTGCCATGTCCTTGCC
Phenotype
Polymorphism
A/G, 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 1456 Missense Mutation CCG,CTG P369L NP_001290036.1
NM_001303108.1 1456 Missense Mutation CCG,CTG P369L NP_001290037.1
NM_032342.2 1456 Missense Mutation CCG,CTG P369L NP_115718.1
XM_017015206.1 1456 Missense Mutation CCG,CTG P369L XP_016870695.1
Gene
TMEM246-AS1
Gene Name
TMEM246 antisense RNA 1
There are no transcripts associated with this gene.

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