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AGTGTGTGGAAGGCCAGGTTTCTCC[A/G]GACGTTGGTGCTAATGGATCGAACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604661 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C10orf76 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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C10orf76 - chromosome 10 open reading frame 76 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024541.2 | 2149 | Missense Mutation | CGG,TGG | R,W 668 | NP_078817.2 | |
XM_006717969.1 | 2149 | Missense Mutation | CGG,TGG | R,W 598 | XP_006718032.1 | |
XM_011540151.2 | 2149 | Missense Mutation | CGG,TGG | R,W 668 | XP_011538453.1 | |
XM_011540152.2 | 2149 | Missense Mutation | CGG,TGG | R,W 646 | XP_011538454.1 | |
XM_011540153.2 | 2149 | Missense Mutation | CGG,TGG | R,W 634 | XP_011538455.1 | |
XM_011540154.2 | 2149 | Missense Mutation | CGG,TGG | R,W 612 | XP_011538456.1 | |
XM_011540156.2 | 2149 | Missense Mutation | CGG,TGG | R,W 494 | XP_011538458.1 | |
XM_011540157.2 | 2149 | Missense Mutation | CGG,TGG | R,W 617 | XP_011538459.1 | |
XM_017016635.1 | 2149 | Intron | XP_016872124.1 | |||
XM_017016636.1 | 2149 | Intron | XP_016872125.1 |
KCNIP2 - potassium voltage-gated channel interacting protein 2 | ||||||
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There are no transcripts associated with this gene. |