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TGAGATACAGCTTCCACTGTGGATC[C/T]TCTAAACTCTTCTAAAAAAAAAATA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
TTC29 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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TTC29 - tetratricopeptide repeat domain 29 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300761.2 | 1674 | Missense Mutation | AGA,GGA | R,G 474 | NP_001287690.1 | |
NM_001317806.1 | 1674 | Missense Mutation | AGA,GGA | R,G 447 | NP_001304735.1 | |
NM_031956.3 | 1674 | Missense Mutation | AGA,GGA | R,G 448 | NP_114162.2 | |
XM_005263270.1 | 1674 | Missense Mutation | AGA,GGA | R,G 465 | XP_005263327.1 | |
XM_006714335.1 | 1674 | Missense Mutation | AGA,GGA | R,G 473 | XP_006714398.1 | |
XM_006714336.1 | 1674 | Missense Mutation | AGA,GGA | R,G 464 | XP_006714399.1 | |
XM_006714339.2 | 1674 | Missense Mutation | AGA,GGA | R,G 412 | XP_006714402.1 | |
XM_011532310.2 | 1674 | Intron | XP_011530612.1 |