Product Details

SNP ID

rs5742966

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:189788724 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATAAAATCATTTCATCCTATAATCA[A/G]TGTAAAAAATTGATATGATTTTTAT

Phenotype

MIM: 610073 MIM: 600258

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ORMDL1 PubMed Links

Additional Information

For this assay, SNP(s) [rs5742965] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ORMDL1

Gene Name

ORMDL sphingolipid biosynthesis regulator 1

There are no transcripts associated with this gene.

Gene

PMS1

Gene Name

PMS1 homolog 1, mismatch repair system component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000534.4		Intron			NP_000525.1
NM_001128143.1		Intron			NP_001121615.1
NM_001128144.1		Intron			NP_001121616.1
NM_001289408.1		Intron			NP_001276337.1
NM_001289409.1		Intron			NP_001276338.1
NM_001321044.1		Intron			NP_001307973.1
NM_001321045.1		Intron			NP_001307974.1
NM_001321046.1		Intron			NP_001307975.1
NM_001321047.1		Intron			NP_001307976.1
NM_001321048.1		Intron			NP_001307977.1
NM_001321049.1		Intron			NP_001307978.1
NM_001321051.1		Intron			NP_001307980.1
XM_006712596.1		Intron			XP_006712659.1
XM_011511356.2		Intron			XP_011509658.1
XM_017004344.1		Intron			XP_016859833.1
XM_017004345.1		Intron			XP_016859834.1
XM_017004346.1		Intron			XP_016859835.1
XM_017004347.1		Intron			XP_016859836.1
XM_017004348.1		Intron			XP_016859837.1
XM_017004349.1		Intron			XP_016859838.1
XM_017004350.1		Intron			XP_016859839.1
XM_017004351.1		Intron			XP_016859840.1

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