Product Details

SNP ID
rs146797147
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:71685298 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGTCCAGCTGCAAAGGTATGAATT[C/G]TTCAAGCACCCCAAGGCCCTGTCCA
Phenotype
MIM: 605835
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TMEM2 PubMed Links

Gene Details

Gene
TMEM2
Gene Name
transmembrane protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135820.1 4402 Missense Mutation CAA,GAA Q1288E NP_001129292.1
NM_013390.2 4402 Missense Mutation CAA,GAA Q1351E NP_037522.1
XM_005251869.4 4402 Nonsense Mutation CAA,GAA Q1351E XP_005251926.1

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