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CTGGCCTTGGGTTCGCGAGTGTTCA[C/T]CTCTTATCTGGCTGCAGTGTTGCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613560 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C9orf50 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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C9orf50 - chromosome 9 open reading frame 50 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_199350.3 | 1021 | Silent Mutation | AGA,AGG | R,R 431 | NP_955382.3 | |
XM_011518655.1 | 1021 | Silent Mutation | AGA,AGG | R,R 431 | XP_011516957.1 | |
XM_011518656.1 | 1021 | Silent Mutation | AGA,AGG | R,R 431 | XP_011516958.1 | |
XM_011518657.2 | 1021 | Silent Mutation | AGA,AGG | R,R 336 | XP_011516959.1 | |
XM_011518658.2 | 1021 | Silent Mutation | AGA,AGG | R,R 335 | XP_011516960.1 | |
XM_011518659.1 | 1021 | Intron | XP_011516961.1 | |||
XM_011518660.1 | 1021 | Intron | XP_011516962.1 | |||
XM_011518661.2 | 1021 | Silent Mutation | AGA,AGG | R,R 247 | XP_011516963.1 | |
XM_011518662.2 | 1021 | Silent Mutation | AGA,AGG | R,R 246 | XP_011516964.1 | |
XM_011518663.1 | 1021 | Intron | XP_011516965.1 | |||
XM_017014708.1 | 1021 | Intron | XP_016870197.1 |
NTMT1 - N-terminal Xaa-Pro-Lys N-methyltransferase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286796.1 | 1021 | Intron | NP_001273725.1 | |||
NM_001286797.1 | 1021 | Intron | NP_001273726.1 | |||
NM_001286798.1 | 1021 | Intron | NP_001273727.1 | |||
NM_001286799.1 | 1021 | Intron | NP_001273728.1 | |||
NM_001286800.1 | 1021 | Intron | NP_001273729.1 | |||
NM_001286801.1 | 1021 | Intron | NP_001273730.1 | |||
NM_001286802.1 | 1021 | Intron | NP_001273731.1 | |||
NM_001286803.1 | 1021 | Intron | NP_001273732.1 | |||
NM_014064.3 | 1021 | Intron | NP_054783.2 | |||
XM_005251939.3 | 1021 | Intron | XP_005251996.1 | |||
XM_017014642.1 | 1021 | Intron | XP_016870131.1 |