Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCACTAATTAATAACCTTCTCAATG[G/T]TATGCACCACCATTCTCCTATGGAC
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
MIM: 609831 MIM: 176763 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
MMACHC 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)
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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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MMACHC - methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015506.2 | Intron | NP_056321.2 | ||||
XM_005270724.4 | Intron | XP_005270781.1 | ||||
XM_011541204.2 | Intron | XP_011539506.1 |
PRDX1 - peroxiredoxin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001202431.1 | Intron | NP_001189360.1 | ||||
NM_002574.3 | Intron | NP_002565.1 | ||||
NM_181696.2 | Intron | NP_859047.1 | ||||
NM_181697.2 | Intron | NP_859048.1 |
Set Membership: |
HapMap |