Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCCAGGCATCAGGGCTGCAGCCCA[A/G]GAGCCTCAAGGCGGCCCGGCGGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 611141 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MIB2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
MIB2 - mindbomb E3 ubiquitin protein ligase 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170686.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | NP_001164157.1 | |
NM_001170687.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | NP_001164158.1 | |
NM_001170688.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | NP_001164159.1 | |
NM_001170689.1 | 301 | UTR 5 | NP_001164160.1 | |||
NM_080875.2 | 301 | Missense Mutation | AAG,AGG | K,R 80 | NP_543151.2 | |
XM_006710372.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | XP_006710435.1 | |
XM_011540731.2 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_011539033.1 | |
XM_011540736.2 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_011539038.1 | |
XM_011540737.2 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_011539039.1 | |
XM_011540741.2 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_011539043.1 | |
XM_011540742.2 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_011539044.1 | |
XM_017000349.1 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_016855838.1 | |
XM_017000350.1 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_016855839.1 | |
XM_017000351.1 | 301 | Missense Mutation | AGA,GGA | R,G 230 | XP_016855840.1 | |
XM_017000352.1 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_016855841.1 | |
XM_017000353.1 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_016855842.1 | |
XM_017000354.1 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_016855843.1 | |
XM_017000355.1 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_016855844.1 | |
XM_017000356.1 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_016855845.1 | |
XM_017000357.1 | 301 | Missense Mutation | AGA,GGA | R,G 236 | XP_016855846.1 | |
XM_017000358.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | XP_016855847.1 | |
XM_017000359.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | XP_016855848.1 | |
XM_017000360.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | XP_016855849.1 | |
XM_017000361.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | XP_016855850.1 | |
XM_017000362.1 | 301 | UTR 5 | XP_016855851.1 | |||
XM_017000363.1 | 301 | UTR 5 | XP_016855852.1 | |||
XM_017000364.1 | 301 | Missense Mutation | AAG,AGG | K,R 80 | XP_016855853.1 | |
XM_017000365.1 | 301 | UTR 5 | XP_016855854.1 | |||
XM_017000366.1 | 301 | UTR 5 | XP_016855855.1 |