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GAACTTCTGAATGGATCCTTTGTCC[C/T]GGATGGAGCCCGAGACACCCTGCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 146690 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IMPDH1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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IMPDH1 - inosine monophosphate dehydrogenase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000883.3 | 1649 | Missense Mutation | CAG,CGG | Q,R 533 | NP_000874.2 | |
NM_001102605.1 | 1649 | Missense Mutation | CAG,CGG | Q,R 523 | NP_001096075.1 | |
NM_001142573.1 | 1649 | Intron | NP_001136045.1 | |||
NM_001142574.1 | 1649 | Intron | NP_001136046.1 | |||
NM_001142575.1 | 1649 | Intron | NP_001136047.1 | |||
NM_001142576.1 | 1649 | Missense Mutation | CAG,CGG | Q,R 500 | NP_001136048.1 | |
NM_001304521.1 | 1649 | Missense Mutation | CAG,CGG | Q,R 464 | NP_001291450.1 | |
NM_183243.2 | 1649 | Intron | NP_899066.1 | |||
XM_017012168.1 | 1649 | Missense Mutation | CAG,CGG | Q,R 523 | XP_016867657.1 | |
XM_017012169.1 | 1649 | Missense Mutation | CAG,CGG | Q,R 497 | XP_016867658.1 | |
XM_017012170.1 | 1649 | Missense Mutation | CAG,CGG | Q,R 464 | XP_016867659.1 | |
XM_017012171.1 | 1649 | Missense Mutation | CAG,CGG | Q,R 456 | XP_016867660.1 | |
XM_017012172.1 | 1649 | Missense Mutation | CAG,CGG | Q,R 456 | XP_016867661.1 | |
XM_017012173.1 | 1649 | Intron | XP_016867662.1 |