Product Details

SNP ID: rs116475156
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:189767539 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATTGCTAATTGGAAAGTCAGAAAAT[G/T]TATACACTGTAAAATTCCTTTCATA
Phenotype: MIM: 609803 MIM: 610073
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: ANKAR PubMed Links

Gene Details

Gene: ANKAR
Gene Name: ankyrin and armadillo repeat containing

There are no transcripts associated with this gene.

Gene: ORMDL1
Gene Name: ORMDL sphingolipid biosynthesis regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128150.1		Intron			NP_001121622.1
NM_016467.4		Intron			NP_057551.1
XM_005246970.2		Intron			XP_005247027.1
XM_011512199.2		Intron			XP_011510501.1
XM_011512200.2		Intron			XP_011510502.1
XM_017005347.1		Intron			XP_016860836.1
XM_017005348.1		Intron			XP_016860837.1

Gene: OSGEPL1
Gene Name: O-sialoglycoprotein endopeptidase-like 1

There are no transcripts associated with this gene.

Gene: OSGEPL1-AS1
Gene Name: OSGEPL1 antisense RNA 1

There are no transcripts associated with this gene.

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