Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTCATTTGAGGAGGAGCCAGGAG[C/T]GGACAAGGTTGAGAACAAATCTAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 601963 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TTC1 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
|
TTC1 - tetratricopeptide repeat domain 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282500.1 | 347 | Missense Mutation | GCG,GTG | A,V 76 | NP_001269429.1 | |
NM_003314.2 | 347 | Missense Mutation | GCG,GTG | A,V 76 | NP_003305.1 |