Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613927 MIM: 138470 MIM: 154040 MIM: 600478 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C2 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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C2 - complement component 2 | ||||||
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There are no transcripts associated with this gene. |
CFB - complement factor B | ||||||
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There are no transcripts associated with this gene. |
MIR1236 - microRNA 1236 | ||||||
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There are no transcripts associated with this gene. |
NELFE - negative elongation factor complex member E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002904.5 | 904 | Missense Mutation | CGG,GGG | R,G 234 | NP_002895.3 | |
XM_006715205.3 | 904 | Missense Mutation | CGG,GGG | R,G 229 | XP_006715268.1 | |
XM_011514913.2 | 904 | Missense Mutation | CGG,GGG | R,G 179 | XP_011513215.1 | |
XM_017011299.1 | 904 | Missense Mutation | CGG,GGG | R,G 174 | XP_016866788.1 |
SKIV2L - Ski2 like RNA helicase | ||||||
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There are no transcripts associated with this gene. |