Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCAAAACCAGACACAGCACAAGCAG[C/T]GGCCACAGGTAAATAATCCAAGGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||
Phenotype: |
MIM: 616472 | ||||||||||||||||||||
Literature Links: |
C1orf43 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
C1orf43 - chromosome 1 open reading frame 43 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
UBAP2L - ubiquitin associated protein 2 like | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127320.2 | 249 | Missense Mutation | CGG,TGG | R,W 28 | NP_001120792.1 | |
NM_001287815.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | NP_001274744.1 | |
NM_001287816.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | NP_001274745.1 | |
NM_014847.3 | 249 | Missense Mutation | CGG,TGG | R,W 28 | NP_055662.3 | |
XM_005245658.3 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_005245715.1 | |
XM_005245667.3 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_005245724.1 | |
XM_005245668.3 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_005245725.1 | |
XM_005245669.3 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_005245726.1 | |
XM_005245670.3 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_005245727.1 | |
XM_005245672.3 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_005245729.1 | |
XM_005245673.3 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_005245730.1 | |
XM_005245674.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_005245731.1 | |
XM_011510215.2 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_011508517.1 | |
XM_011510216.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_011508518.1 | |
XM_017002972.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858461.1 | |
XM_017002973.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858462.1 | |
XM_017002974.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858463.1 | |
XM_017002975.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858464.1 | |
XM_017002976.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858465.1 | |
XM_017002977.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858466.1 | |
XM_017002978.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858467.1 | |
XM_017002979.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858468.1 | |
XM_017002980.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858469.1 | |
XM_017002981.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858470.1 | |
XM_017002982.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858471.1 | |
XM_017002983.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858472.1 | |
XM_017002984.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858473.1 | |
XM_017002985.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858474.1 | |
XM_017002986.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858475.1 | |
XM_017002987.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858476.1 | |
XM_017002988.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858477.1 | |
XM_017002989.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858478.1 | |
XM_017002990.1 | 249 | Missense Mutation | CGG,TGG | R,W 28 | XP_016858479.1 | |
XM_017002991.1 | 249 | UTR 5 | XP_016858480.1 |