Product Details

SNP ID
rs199844838
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:63595507 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGGAACTGCAAGACTGTGCCCTT[C/T]CCCTCCTGAAAGGTGGGTTGGGGAG
Phenotype
MIM: 154200 MIM: 613580
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MDH1 PubMed Links

Gene Details

Gene
MDH1
Gene Name
malate dehydrogenase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199111.1 622 Missense Mutation CCC,TCC P81S NP_001186040.1
NM_001199112.1 622 Intron NP_001186041.1
NM_001316374.1 622 Missense Mutation CCC,TCC P63S NP_001303303.1
NM_005917.3 622 Missense Mutation CCC,TCC P63S NP_005908.1
Gene
WDPCP
Gene Name
WD repeat containing planar cell polarity effector
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042692.2 622 Intron NP_001036157.1
NM_015910.5 622 Intron NP_056994.3
XM_005264348.3 622 Intron XP_005264405.1
XM_011532881.2 622 Intron XP_011531183.1
XM_011532884.2 622 Intron XP_011531186.1
XM_011532886.2 622 Intron XP_011531188.1
XM_011532887.2 622 Intron XP_011531189.1
XM_011532890.2 622 Intron XP_011531192.1
XM_011532891.2 622 Intron XP_011531193.1
XM_017004251.1 622 Intron XP_016859740.1
XM_017004252.1 622 Intron XP_016859741.1
XM_017004253.1 622 Intron XP_016859742.1
XM_017004254.1 622 Intron XP_016859743.1

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