Product Details

SNP ID
rs139971606
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:4539421 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGGGCCCGTACCTGTGCTCAGGG[C/T]TTCCCTGCCTTCCTCACCTGTGCTT
Phenotype
MIM: 604885 MIM: 612584
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MYBBP1A PubMed Links

Gene Details

Gene
MYBBP1A
Gene Name
MYB binding protein 1a
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105538.1 4035 Intron NP_001099008.1
NM_014520.3 4035 Silent Mutation AAA,AAG K1327K NP_055335.2
XM_011523616.2 4035 Silent Mutation AAA,AAG K1075K XP_011521918.1
Gene
SPNS2
Gene Name
sphingolipid transporter 2
There are no transcripts associated with this gene.

View Full Product Details