Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACTCCACCCACAGCTGGCCGCGCC[A/G]CCGCTCAGGTTTCAATTTTTATTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607568 MIM: 251170 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MMAB 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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MMAB - methylmalonic aciduria (cobalamin deficiency) cblB type | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_052845.3 | 124 | Intron | NP_443077.1 | |||
XM_011538267.2 | 124 | Intron | XP_011536569.1 | |||
XM_011538268.2 | 124 | Intron | XP_011536570.1 | |||
XM_011538269.2 | 124 | Intron | XP_011536571.1 |
MVK - mevalonate kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000431.3 | 124 | Intron | NP_000422.1 | |||
NM_001114185.2 | 124 | Intron | NP_001107657.1 | |||
NM_001301182.1 | 124 | Intron | NP_001288111.1 | |||
XM_011538372.2 | 124 | Missense Mutation | CAC,CGC | H,R 93 | XP_011536674.2 | |
XM_017019313.1 | 124 | UTR 5 | XP_016874802.1 | |||
XM_017019314.1 | 124 | Intron | XP_016874803.1 |