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CACTGAGTTGACCACATCCTCGTGC[C/T]GCAGCCTGGCCAGACAGATGTTGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120930 MIM: 609072 MIM: 612905 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C8G 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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C8G - complement component 8, gamma polypeptide | ||||||
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There are no transcripts associated with this gene. |
FBXW5 - F-box and WD repeat domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018998.3 | 1703 | Missense Mutation | CAG,CGG | Q,R 508 | NP_061871.1 | |
XM_005266089.2 | 1703 | Missense Mutation | CAG,CGG | Q,R 518 | XP_005266146.2 | |
XM_011518789.1 | 1703 | Missense Mutation | CAG,CGG | Q,R 500 | XP_011517091.1 | |
XM_017014812.1 | 1703 | Missense Mutation | CAG,CGG | Q,R 490 | XP_016870301.1 |
LCN12 - lipocalin 12 | ||||||
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There are no transcripts associated with this gene. |