Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGCTTCTGAGGGTGCGAAGAGGCT[G/T]GGCCTGGCCGGAGAAGGAGCCCCTG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 615740 | |||||||||||||||||||||||
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 | ||||||
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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 |