Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGCTCCAGGTTTCTGTGCGGGTC[C/T]AAGAAGGCTCGGAGGCTGCTTCGCG
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 |
---|---|---|
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 |
C9orf50 - chromosome 9 open reading frame 50 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_199350.3 | 892 | Silent Mutation | TTA,TTG | L,L 388 | NP_955382.3 | |
XM_011518655.1 | 892 | Silent Mutation | TTA,TTG | L,L 388 | XP_011516957.1 | |
XM_011518656.1 | 892 | Silent Mutation | TTA,TTG | L,L 388 | XP_011516958.1 | |
XM_011518657.2 | 892 | Silent Mutation | TTA,TTG | L,L 293 | XP_011516959.1 | |
XM_011518658.2 | 892 | Silent Mutation | TTA,TTG | L,L 292 | XP_011516960.1 | |
XM_011518659.1 | 892 | Intron | XP_011516961.1 | |||
XM_011518660.1 | 892 | Intron | XP_011516962.1 | |||
XM_011518661.2 | 892 | Silent Mutation | TTA,TTG | L,L 204 | XP_011516963.1 | |
XM_011518662.2 | 892 | Silent Mutation | TTA,TTG | L,L 203 | XP_011516964.1 | |
XM_011518663.1 | 892 | Intron | XP_011516965.1 | |||
XM_017014708.1 | 892 | Intron | XP_016870197.1 |
NTMT1 - N-terminal Xaa-Pro-Lys N-methyltransferase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286796.1 | 892 | Intron | NP_001273725.1 | |||
NM_001286797.1 | 892 | Intron | NP_001273726.1 | |||
NM_001286798.1 | 892 | Intron | NP_001273727.1 | |||
NM_001286799.1 | 892 | Intron | NP_001273728.1 | |||
NM_001286800.1 | 892 | Intron | NP_001273729.1 | |||
NM_001286801.1 | 892 | Intron | NP_001273730.1 | |||
NM_001286802.1 | 892 | Intron | NP_001273731.1 | |||
NM_001286803.1 | 892 | Intron | NP_001273732.1 | |||
NM_014064.3 | 892 | Intron | NP_054783.2 | |||
XM_005251939.3 | 892 | Intron | XP_005251996.1 | |||
XM_017014642.1 | 892 | Intron | XP_016870131.1 |