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ATCTTCTCTGCACTGTTCAGTGCCA[A/T]AACTTTTATTTTAAAGGTTAATAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612655 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TBC1D7 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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TBC1D7 - TBC1 domain family member 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143964.3 | 887 | Missense Mutation | ATG,TTG | M,L 251 | NP_001137436.1 | |
NM_001143965.3 | 887 | Missense Mutation | ATG,TTG | M,L 251 | NP_001137437.1 | |
NM_001143966.3 | 887 | Missense Mutation | ATG,TTG | M,L 224 | NP_001137438.1 | |
NM_001258457.2 | 887 | Missense Mutation | ATG,TTG | M,L 205 | NP_001245386.1 | |
NM_001318805.1 | 887 | Missense Mutation | ATG,TTG | M,L 251 | NP_001305734.1 | |
NM_001318806.1 | 887 | Intron | NP_001305735.1 | |||
NM_016495.5 | 887 | Missense Mutation | ATG,TTG | M,L 251 | NP_057579.1 |
TBC1D7-LOC100130357 - TBC1D7-LOC100130357 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318809.1 | 887 | Missense Mutation | ATG,TTG | M,L 251 | NP_001305738.1 |