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ACAAAAAAACAAGCTACATACCTGG[C/T]GCTCTTCATGTTTTCCATGCACCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123590 MIM: 602179 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C11orf52 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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C11orf52 - chromosome 11 open reading frame 52 | ||||||
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There are no transcripts associated with this gene. |
CRYAB - crystallin alpha B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289807.1 | 627 | Missense Mutation | NP_001276736.1 | |||
NM_001289808.1 | 627 | Missense Mutation | NP_001276737.1 | |||
NM_001885.2 | 627 | Missense Mutation | NP_001876.1 | |||
XM_011542608.1 | 627 | Missense Mutation | XP_011540910.1 | |||
XM_011542609.2 | 627 | Missense Mutation | XP_011540911.1 |
HSPB2 - heat shock protein family B (small) member 2 | ||||||
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There are no transcripts associated with this gene. |
HSPB2-C11orf52 - HSPB2-C11orf52 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |