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GGACAGGCTCCGTGGACTGTGGGTT[C/G]CTGGGATTGTAGACGCCTGTACACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CECR5 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)
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SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
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Japanese - Not Available | JPT (Japanese)
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EUR
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AMR
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CECR5 - cat eye syndrome chromosome region, candidate 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017829.5 | 1602 | Missense Mutation | AGC,AGG | S,R 339 | NP_060299.4 | |
NM_033070.2 | 1602 | Missense Mutation | AGC,AGG | S,R 369 | NP_149061.1 | |
XM_005261236.3 | 1602 | Missense Mutation | AGC,AGG | S,R 208 | XP_005261293.1 | |
XM_011546126.2 | 1602 | Missense Mutation | AGC,AGG | S,R 301 | XP_011544428.1 | |
XM_011546127.1 | 1602 | Missense Mutation | AGC,AGG | S,R 247 | XP_011544429.1 | |
XM_017028781.1 | 1602 | Missense Mutation | AGC,AGG | S,R 208 | XP_016884270.1 | |
XM_017028782.1 | 1602 | Missense Mutation | AGC,AGG | S,R 180 | XP_016884271.1 | |
XM_017028783.1 | 1602 | Missense Mutation | AGC,AGG | S,R 180 | XP_016884272.1 | |
XM_017028784.1 | 1602 | Missense Mutation | AGC,AGG | S,R 180 | XP_016884273.1 |
LOC100996342 - uncharacterized LOC100996342 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |