Product Details

SNP ID
rs62620242
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:4539636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCATTCACCTGGGACGGCTTCT[A/G]GTTTTTCTTCTGCAGTTTTGGGGAT
Phenotype
MIM: 604885 MIM: 612584
Polymorphism
A/G, 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 3828 Nonsense Mutation CAG,TAG Q1256* NP_001099008.1
NM_014520.3 3828 Nonsense Mutation CAG,TAG Q1256* NP_055335.2
XM_011523616.2 3828 Nonsense Mutation CAG,TAG Q1004* XP_011521918.1
Gene
SPNS2
Gene Name
sphingolipid transporter 2
There are no transcripts associated with this gene.

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