Product Details

SNP ID
rs7380824
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:139477397 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATCTGCCAGGATGTCCTCAAGTGTC[C/T]GGCAGAAGAGTTTGGCCTGCTCAAG
Phenotype
MIM: 612374
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TMEM173 PubMed Links

Gene Details

Gene
TMEM173
Gene Name
transmembrane protein 173
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301738.1 915 Intron NP_001288667.1
NM_198282.3 915 Missense Mutation CAG,CGG Q293R NP_938023.1
XM_005268445.3 915 Intron XP_005268502.1
XM_011537639.2 915 Intron XP_011535941.1
XM_011537640.2 915 Missense Mutation CAG,CGG Q174R XP_011535942.1

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