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TGTGCACCATATTGTAAGTTGAACG[G/T]GTGATTCTCTTGTTCCCATATATTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C9orf84 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
C9orf84 - chromosome 9 open reading frame 84 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080551.2 | 4240 | Missense Mutation | ACG,CCG | T,P 1268 | NP_001074020.2 | |
NM_173521.4 | 4240 | Missense Mutation | ACG,CCG | T,P 1307 | NP_775792.4 | |
XM_006716974.2 | 4240 | Missense Mutation | ACG,CCG | T,P 1371 | XP_006717037.1 | |
XM_006716975.2 | 4240 | Missense Mutation | ACG,CCG | T,P 1336 | XP_006717038.1 | |
XM_011518302.2 | 4240 | Missense Mutation | ACG,CCG | T,P 1307 | XP_011516604.1 | |
XM_011518303.1 | 4240 | Missense Mutation | ACG,CCG | T,P 1307 | XP_011516605.1 | |
XM_011518306.1 | 4240 | Missense Mutation | ACG,CCG | T,P 1182 | XP_011516608.1 | |
XM_011518309.1 | 4240 | Intron | XP_011516611.1 | |||
XM_017014340.1 | 4240 | Missense Mutation | ACG,CCG | T,P 1258 | XP_016869829.1 | |
XM_017014341.1 | 4240 | Intron | XP_016869830.1 |