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AGTTTCCAGCGCCGACCGACAGACG[A/T]GGTTTGCGCTTGGCTGGGCATGTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611432 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C9orf66 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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C9orf66 - chromosome 9 open reading frame 66 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152569.2 | 1021 | Missense Mutation | CAC,CTC | H,L 175 | NP_689782.2 |
DOCK8 - dedicator of cytokinesis 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190458.1 | 1021 | Intron | NP_001177387.1 | |||
NM_001193536.1 | 1021 | Intron | NP_001180465.1 | |||
NM_203447.3 | 1021 | UTR 5 | NP_982272.2 | |||
XM_011518045.2 | 1021 | Intron | XP_011516347.1 | |||
XM_011518046.2 | 1021 | Intron | XP_011516348.1 | |||
XM_011518047.2 | 1021 | Intron | XP_011516349.1 | |||
XM_011518048.2 | 1021 | Intron | XP_011516350.1 | |||
XM_011518049.2 | 1021 | Intron | XP_011516351.1 | |||
XM_017015173.1 | 1021 | Intron | XP_016870662.1 | |||
XM_017015174.1 | 1021 | Intron | XP_016870663.1 |