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GGCGCCAGTCGCTCTTGCTGCCCAC[A/C]ACCACCTCCCAGTAGTGGCGGCCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615732 MIM: 612548 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NSUN5 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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NSUN5 - NOP2/Sun RNA methyltransferase family member 5 | ||||||
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There are no transcripts associated with this gene. |
TRIM50 - tripartite motif containing 50 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281450.1 | 1188 | Silent Mutation | GTG,GTT | V,V 353 | NP_001268379.1 | |
NM_001281451.1 | 1188 | Silent Mutation | GTG,GTT | V,V 354 | NP_001268380.1 | |
NM_178125.3 | 1188 | Silent Mutation | GTG,GTT | V,V 354 | NP_835226.2 | |
XM_011515787.1 | 1188 | Intron | XP_011514089.1 | |||
XM_011515788.2 | 1188 | Silent Mutation | GTG,GTT | V,V 145 | XP_011514090.1 | |
XM_011515789.2 | 1188 | Silent Mutation | GTG,GTT | V,V 353 | XP_011514091.2 |