Product Details

SNP ID
rs200287215
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:52064837 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTATTTTTCAGGGTACAGCTCGC[A/G]GAAAGAAGAAGGTGGTACATAGAAC
Phenotype
MIM: 609448
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BTF3L4 PubMed Links

Gene Details

Gene
BTF3L4
Gene Name
basic transcription factor 3 like 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136497.2 275 UTR 5 NP_001129969.1
NM_001243767.1 275 Missense Mutation AGA,GGA R23G NP_001230696.1
NM_152265.4 275 Missense Mutation AGA,GGA R23G NP_689478.1
Gene
TXNDC12
Gene Name
thioredoxin domain containing 12
There are no transcripts associated with this gene.

View Full Product Details