Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAACTTTTATTTTAAAGGTTAATAA[A/C]ATTTCGACAGCTACAAAAACTAGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 612655 | ||||||||||||||||||||
Literature Links: |
TBC1D7 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 |
TBC1D7 - TBC1 domain family member 7 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143964.3 | 862 | Missense Mutation | ATG,ATT | M,I 242 | NP_001137436.1 | |
NM_001143965.3 | 862 | Missense Mutation | ATG,ATT | M,I 242 | NP_001137437.1 | |
NM_001143966.3 | 862 | Missense Mutation | ATG,ATT | M,I 215 | NP_001137438.1 | |
NM_001258457.2 | 862 | Missense Mutation | ATG,ATT | M,I 196 | NP_001245386.1 | |
NM_001318805.1 | 862 | Missense Mutation | ATG,ATT | M,I 242 | NP_001305734.1 | |
NM_001318806.1 | 862 | Intron | NP_001305735.1 | |||
NM_016495.5 | 862 | Missense Mutation | ATG,ATT | M,I 242 | NP_057579.1 |
TBC1D7-LOC100130357 - TBC1D7-LOC100130357 readthrough | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318809.1 | 862 | Missense Mutation | ATG,ATT | M,I 242 | NP_001305738.1 |