Product Details

SNP ID
rs200782432
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:4434065 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGGCAGTGTCCCCCTCCCATCA[C/T]GCCCACCTCCTGGAGCCTGCCCCCG
Phenotype
MIM: 611701
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SPNS3 PubMed Links

Gene Details

Gene
SPNS3
Gene Name
sphingolipid transporter 3 (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320449.1 126 UTR 5 NP_001307378.1
NM_182538.4 126 Missense Mutation ACG,ATG T33M NP_872344.3
XM_011523723.1 126 Missense Mutation ACG,ATG T33M XP_011522025.1
XM_011523724.1 126 Missense Mutation ACG,ATG T33M XP_011522026.1
XM_011523725.1 126 Missense Mutation ACG,ATG T33M XP_011522027.1
XM_011523726.2 126 Intron XP_011522028.1
XM_011523728.2 126 Intron XP_011522030.1
XM_017024345.1 126 Intron XP_016879834.1

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