Product Details

SNP ID
rs80148012
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:71689632 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCCGTGGCGTTGGCTGTTTTCT[G/T]TTGTTGTTCCTGTTCTGATCGTCTC
Phenotype
MIM: 612531
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
THAP2 PubMed Links

Gene Details

Gene
THAP2
Gene Name
THAP domain containing 2
There are no transcripts associated with this gene.

Gene
TMEM19
Gene Name
transmembrane protein 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018279.3 755 Missense Mutation GTT,TTT V58F NP_060749.2

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