Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGATCCTCGTTCTCCCGTGAGAGC[A/T]GCAAGCCCCGGGCCCCCAGACCCAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 605770 | ||||||||||||||||||||
Literature Links: |
ILVBL 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 |
ILVBL - ilvB acetolactate synthase like | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006844.4 | 1917 | Missense Mutation | CAG,CTG | Q,L 588 | NP_006835.2 | |
XM_005259717.4 | 1917 | Missense Mutation | CAG,CTG | Q,L 588 | XP_005259774.1 | |
XM_011527651.2 | 1917 | Missense Mutation | CAG,CTG | Q,L 481 | XP_011525953.1 |
SYDE1 - synapse defective Rho GTPase homolog 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300910.1 | 1917 | Intron | NP_001287839.1 | |||
NM_033025.5 | 1917 | Intron | NP_149014.3 |