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- SNP ID:
- rs150988847
- Gene
-
TBC1D5 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.3: 17161145 - 17161145 on Build GRCh38
- Polymorphism:
- G/T, Transversion substitution
- Context Sequence [VIC/FAM]:
GTGCTTCTGAGGGTGCGAAGAGGCT[G/T]GGCCTGGCCGGAGAAGGAGCCCCTG
Genomic Map
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Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 615740
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Literature Links: |
TBC1D5 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
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 |
| TBC1D5 - TBC1 domain family member 5 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001134381.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | NP_001127853.1 | |
| NM_014744.2 | 2299 | Missense Mutation | AAG,CAG | K,Q 736 | NP_055559.1 | |
| XM_005265611.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_005265668.1 | |
| XM_005265612.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_005265669.1 | |
| XM_005265614.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 736 | XP_005265671.1 | |
| XM_005265615.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 622 | XP_005265672.1 | |
| XM_005265616.4 | 2299 | Missense Mutation | AAG,CAG | K,Q 622 | XP_005265673.1 | |
| XM_006713430.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_006713493.1 | |
| XM_011534281.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_011532583.1 | |
| XM_011534283.2 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_011532585.1 | |
| XM_011534284.2 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_011532586.1 | |
| XM_011534286.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_011532588.1 | |
| XM_011534287.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 622 | XP_011532589.1 | |
| XM_017007552.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_016863041.1 | |
| XM_017007553.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_016863042.1 | |
| XM_017007554.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_016863043.1 | |
| XM_017007555.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_016863044.1 | |
| XM_017007556.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 758 | XP_016863045.1 | |
| XM_017007557.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 736 | XP_016863046.1 | |
| XM_017007558.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 736 | XP_016863047.1 | |
| XM_017007559.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 736 | XP_016863048.1 | |
| XM_017007560.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 736 | XP_016863049.1 | |
| XM_017007561.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 736 | XP_016863050.1 | |
| XM_017007562.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 622 | XP_016863051.1 | |
| XM_017007563.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 600 | XP_016863052.1 | |
| XM_017007564.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 600 | XP_016863053.1 | |
| XM_017007565.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 600 | XP_016863054.1 | |
| XM_017007566.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 600 | XP_016863055.1 | |
| XM_017007567.1 | 2299 | Missense Mutation | AAG,CAG | K,Q 600 | XP_016863056.1 | |
| XM_017007568.1 | 2299 | Intron | XP_016863057.1 | |||
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