Product Details

SNP ID
rs141830680
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:139476325 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACTGATGAGGAGCTCAGGCTCT[C/T]GGGACATCGTGGAGGTACTGGGCAC
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 1153 UTR 3 NP_001288667.1
NM_198282.3 1153 Missense Mutation CAA,CGA Q359R NP_938023.1
XM_005268445.3 1153 UTR 3 XP_005268502.1
XM_011537639.2 1153 Intron XP_011535941.1
XM_011537640.2 1153 Missense Mutation CAA,CGA Q240R XP_011535942.1

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