Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCATCTAAACTGAGACCACAATCCA[G/T]TCCCGTTTTGACAATTGAAATGTCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 603766 MIM: 191343 | ||||||||||||||||||||
Literature Links: |
CLHC1 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 |
CLHC1 - clathrin heavy chain linker domain containing 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
MTIF2 - mitochondrial translational initiation factor 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005369.1 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | NP_001005369.1 | |
NM_001321001.1 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | NP_001307930.1 | |
NM_001321002.1 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | NP_001307931.1 | |
NM_001321003.1 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | NP_001307932.1 | |
NM_001321004.1 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | NP_001307933.1 | |
NM_001321005.1 | 2384 | Missense Mutation | ATG,CTG | M,L 447 | NP_001307934.1 | |
NM_002453.2 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | NP_002444.2 | |
XM_005264335.3 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | XP_005264392.1 | |
XM_011532871.2 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | XP_011531173.1 | |
XM_017004162.1 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | XP_016859651.1 | |
XM_017004163.1 | 2384 | Missense Mutation | ATG,CTG | M,L 690 | XP_016859652.1 | |
XM_017004164.1 | 2384 | Missense Mutation | ATG,CTG | M,L 631 | XP_016859653.1 | |
XM_017004165.1 | 2384 | Missense Mutation | ATG,CTG | M,L 447 | XP_016859654.1 | |
XM_017004166.1 | 2384 | Missense Mutation | ATG,CTG | M,L 447 | XP_016859655.1 | |
XM_017004167.1 | 2384 | Missense Mutation | ATG,CTG | M,L 359 | XP_016859656.1 |
RPS27A - ribosomal protein S27a | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135592.2 | 2384 | Intron | NP_001129064.1 | |||
NM_001177413.1 | 2384 | Intron | NP_001170884.1 | |||
NM_002954.5 | 2384 | Intron | NP_002945.1 |