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GCTGTGCCCTTGATGACCCCCAGGC[A/G]CCAGTCGCTCTTGCTGCCCACCACC
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 |
---|---|---|
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 |
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 | 1210 | Missense Mutation | CGC,TGC | R,C 361 | NP_001268379.1 | |
NM_001281451.1 | 1210 | Missense Mutation | CGC,TGC | R,C 362 | NP_001268380.1 | |
NM_178125.3 | 1210 | Missense Mutation | CGC,TGC | R,C 362 | NP_835226.2 | |
XM_011515787.1 | 1210 | Intron | XP_011514089.1 | |||
XM_011515788.2 | 1210 | Missense Mutation | CGC,TGC | R,C 153 | XP_011514090.1 | |
XM_011515789.2 | 1210 | Missense Mutation | CGC,TGC | R,C 361 | XP_011514091.2 |