Product Details

SNP ID
rs145732261
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:27935221 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTGGCTGATTTTCCTGGCTAACT[A/G]GGGAGGTGCCAGGGCTGAACCAGGT
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SMPDL3B PubMed Links

Gene Details

Gene
SMPDL3B
Gene Name
sphingomyelin phosphodiesterase acid like 3B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009568.2 267 Nonsense Mutation TAG,TGG *13W NP_001009568.1
NM_001304579.1 267 UTR 5 NP_001291508.1
NM_014474.3 267 Nonsense Mutation TAG,TGG *13W NP_055289.2
XM_011541259.2 267 Nonsense Mutation TAG,TGG *13W XP_011539561.1
XM_011541260.2 267 Intron XP_011539562.1

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