Product Details

SNP ID
rs5742937
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:189785163 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GAAAGTTTGTGATTTTTATTGCCGA[A/G]ATAGCTTTCAACATTTTGAAATTGA
Phenotype
MIM: 610073 MIM: 600258
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ORMDL1 PubMed Links

Gene Details

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
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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