Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCAAATTGCATATTCACTGCTGTAC[A/G]GTATTGGAAATGGATCTGTCTTTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 154200 MIM: 613580 | ||||||||||||||||||||
Literature Links: |
MDH1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MDH1 - malate dehydrogenase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199111.1 | 298 | Missense Mutation | AGT,GGT | S,G 41 | NP_001186040.1 | |
NM_001199112.1 | 298 | UTR 5 | NP_001186041.1 | |||
NM_001316374.1 | 298 | Missense Mutation | AGT,GGT | S,G 23 | NP_001303303.1 | |
NM_005917.3 | 298 | Missense Mutation | AGT,GGT | S,G 23 | NP_005908.1 |
WDPCP - WD repeat containing planar cell polarity effector | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042692.2 | 298 | Intron | NP_001036157.1 | |||
NM_015910.5 | 298 | Intron | NP_056994.3 | |||
XM_005264348.3 | 298 | Intron | XP_005264405.1 | |||
XM_011532881.2 | 298 | Intron | XP_011531183.1 | |||
XM_011532884.2 | 298 | Intron | XP_011531186.1 | |||
XM_011532886.2 | 298 | Intron | XP_011531188.1 | |||
XM_011532887.2 | 298 | Intron | XP_011531189.1 | |||
XM_011532890.2 | 298 | Intron | XP_011531192.1 | |||
XM_011532891.2 | 298 | Intron | XP_011531193.1 | |||
XM_017004251.1 | 298 | Intron | XP_016859740.1 | |||
XM_017004252.1 | 298 | Intron | XP_016859741.1 | |||
XM_017004253.1 | 298 | Intron | XP_016859742.1 | |||
XM_017004254.1 | 298 | Intron | XP_016859743.1 |