Product Details

SNP ID
rs36099812
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:93242413 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACTGTCTGCCAGTCTTCTACCGG[A/C]TCTCTCTTCGGGAGCTTCAGAGCTA
Phenotype
MIM: 610386
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
BTBD7 PubMed Links

Gene Details

Gene
BTBD7
Gene Name
BTB domain containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002860.3 3403 Missense Mutation GCC,TCC A1087S NP_001002860.2
NM_001289133.1 3403 Missense Mutation GCC,TCC A736S NP_001276062.1
NM_018167.4 3403 Intron NP_060637.1
XM_011536939.2 3403 Missense Mutation GCC,TCC A1087S XP_011535241.1
XM_017021438.1 3403 Missense Mutation GCC,TCC A612S XP_016876927.1

View Full Product Details