Product Details

SNP ID
rs199646220
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:151184326 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAACCACAGACTTACCCAGTGACC[A/G]TAAATTAAGCTCTTCTGTGATCTTG
Phenotype
MIM: 605834 MIM: 600607
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TMOD4 PubMed Links

Gene Details

Gene
TMOD4
Gene Name
tropomodulin 4
There are no transcripts associated with this gene.

Gene
VPS72
Gene Name
vacuolar protein sorting 72 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271087.1 645 Missense Mutation CGG,TGG R185W NP_001258016.1
NM_001271088.1 645 Missense Mutation CGG,TGG R185W NP_001258017.1
NM_005997.2 645 Missense Mutation CGG,TGG R185W NP_005988.1
XM_017002205.1 645 Missense Mutation CGG,TGG R53W XP_016857694.1

View Full Product Details