Product Details

SNP ID

rs201643190

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:27960155 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGCCTTCCTGCTCGACCTGGGCA[C/T]CGACCTGTGGGCCGCCGTCCAGTAT

Phenotype

Polymorphism

C/T, 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	694	Intron			NP_001009568.1
NM_001304579.1	694	Intron			NP_001291508.1
NM_014474.3	694	Intron			NP_055289.2
XM_011541259.2	694	Intron			XP_011539561.1
XM_011541260.2	694	Intron			XP_011539562.1

Gene

XKR8

Gene Name

XK related 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018053.3	694	Missense Mutation	ACC,ATC	T29I	NP_060523.2
XM_011541679.2	694	UTR 5			XP_011539981.1
XM_011541680.2	694	UTR 5			XP_011539982.1

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