Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTAACTCTACCAAACTGGATAGCC[A/T]GAACCTTATAAAGGATCAAGAACTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
6 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 |
---|---|---|
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 |
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 |