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CTCAAAGAAGACCTGCCTCTGGCCG[C/G]CCCGGTTCAGGTCGCTCACGGCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616109 MIM: 612810 MIM: 608786 MIM: 605385 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C11orf80 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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C11orf80 - chromosome 11 open reading frame 80 | ||||||
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There are no transcripts associated with this gene. |
LRFN4 - leucine rich repeat and fibronectin type III domain containing 4 | ||||||
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There are no transcripts associated with this gene. |
PC - pyruvate carboxylase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000920.3 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | NP_000911.2 | |
NM_001040716.1 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | NP_001035806.1 | |
NM_022172.2 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | NP_071504.2 | |
XM_005274031.4 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_005274088.1 | |
XM_005274032.4 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_005274089.1 | |
XM_006718578.3 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_006718641.1 | |
XM_006718579.3 | 3353 | Missense Mutation | GCC,GGC | A,G 564 | XP_006718642.1 | |
XM_011545086.2 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_011543388.1 | |
XM_011545087.2 | 3353 | Missense Mutation | GCC,GGC | A,G 639 | XP_011543389.1 | |
XM_017017868.1 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_016873357.1 | |
XM_017017869.1 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_016873358.1 | |
XM_017017870.1 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_016873359.1 | |
XM_017017871.1 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_016873360.1 | |
XM_017017872.1 | 3353 | Missense Mutation | GCC,GGC | A,G 1071 | XP_016873361.1 |
RCE1 - Ras converting CAAX endopeptidase 1 | ||||||
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There are no transcripts associated with this gene. |