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CACTGACCTAGGCAACAAGGAGAGC[G/T]GCAAGATATGGCACCGCAAGCCGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
TBC1D31 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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TBC1D31 - TBC1 domain family member 31 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145088.1 | 238 | Missense Mutation | GGC,TGC | G,C 12 | NP_001138560.1 | |
NM_145647.3 | 238 | Missense Mutation | GGC,TGC | G,C 12 | NP_663622.2 | |
XM_005251102.1 | 238 | Missense Mutation | GGC,TGC | G,C 12 | XP_005251159.1 | |
XM_005251103.1 | 238 | Missense Mutation | GGC,TGC | G,C 12 | XP_005251160.1 | |
XM_005251104.1 | 238 | Missense Mutation | GGC,TGC | G,C 12 | XP_005251161.1 | |
XM_011517378.2 | 238 | UTR 5 | XP_011515680.1 | |||
XM_011517379.2 | 238 | Missense Mutation | GGC,TGC | G,C 12 | XP_011515681.1 | |
XM_017013983.1 | 238 | Missense Mutation | GGC,TGC | G,C 12 | XP_016869472.1 | |
XM_017013984.1 | 238 | Intron | XP_016869473.1 | |||
XM_017013985.1 | 238 | UTR 5 | XP_016869474.1 | |||
XM_017013986.1 | 238 | UTR 5 | XP_016869475.1 | |||
XM_017013987.1 | 238 | Missense Mutation | GGC,TGC | G,C 12 | XP_016869476.1 | |
XM_017013988.1 | 238 | UTR 5 | XP_016869477.1 | |||
XM_017013989.1 | 238 | UTR 5 | XP_016869478.1 | |||
XM_017013990.1 | 238 | UTR 5 | XP_016869479.1 |