Product Details

SNP ID
rs114834699
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:139478449 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGAATATACAGCCGCTGGCTCA[A/C]TGCACCCCGTAGCAGGTTGTTGTAA
Phenotype
MIM: 612374
Polymorphism
A/C, Transversion 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_001301738.1 844 Missense Mutation GTG,TTG V194L NP_001288667.1
NM_198282.3 844 Missense Mutation GTG,TTG V194L NP_938023.1
XM_005268445.3 844 Missense Mutation GTG,TTG V194L XP_005268502.1
XM_011537639.2 844 Missense Mutation GTG,TTG V194L XP_011535941.1
XM_011537640.2 844 Missense Mutation GTG,TTG V75L XP_011535942.1

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