Product Details

SNP ID
rs199847016
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:55782798 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAAAGGCTATTACATCAGAGACA[A/G]TGGCAACAATTCAGGTAATATAGTA
Phenotype
MIM: 606461
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TGS1 PubMed Links

Gene Details

Gene
TGS1
Gene Name
trimethylguanosine synthase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317902.1 325 Intron NP_001304831.1
NM_024831.7 325 Missense Mutation AAT,AGT N51S NP_079107.6
XM_005251328.2 325 Intron XP_005251385.1
XM_006716485.2 325 Missense Mutation AAT,AGT N51S XP_006716548.1
XM_017014004.1 325 Missense Mutation AAT,AGT N51S XP_016869493.1
Gene
TMEM68
Gene Name
transmembrane protein 68
There are no transcripts associated with this gene.

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