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ACCACTGACTGATGAATTTCAGCAC[A/G]TCCTGGCACACTGGGCTGTGGGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607386 MIM: 606010 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IFT172 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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IFT172 - intraflagellar transport 172 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015662.2 | 5371 | Silent Mutation | GAC,GAT | D,D 1729 | NP_056477.1 | |
XM_005264254.1 | 5371 | Silent Mutation | GAC,GAT | D,D 1707 | XP_005264311.1 | |
XM_006711986.3 | 5371 | Silent Mutation | GAC,GAT | D,D 1708 | XP_006712049.1 | |
XM_006711987.1 | 5371 | Silent Mutation | GAC,GAT | D,D 1696 | XP_006712050.1 | |
XM_011532757.2 | 5371 | Silent Mutation | GAC,GAT | D,D 1502 | XP_011531059.1 | |
XM_011532758.1 | 5371 | Intron | XP_011531060.1 | |||
XM_011532759.2 | 5371 | Silent Mutation | GAC,GAT | D,D 1209 | XP_011531061.1 | |
XM_011532760.2 | 5371 | Silent Mutation | GAC,GAT | D,D 1084 | XP_011531062.1 | |
XM_017003790.1 | 5371 | Silent Mutation | GAC,GAT | D,D 1686 | XP_016859279.1 | |
XM_017003791.1 | 5371 | Silent Mutation | GAC,GAT | D,D 1502 | XP_016859280.1 | |
XM_017003792.1 | 5371 | Intron | XP_016859281.1 | |||
XM_017003793.1 | 5371 | Silent Mutation | GAC,GAT | D,D 1108 | XP_016859282.1 | |
XM_017003794.1 | 5371 | Silent Mutation | GAC,GAT | D,D 1108 | XP_016859283.1 | |
XM_017003795.1 | 5371 | Silent Mutation | GAC,GAT | D,D 1040 | XP_016859284.1 |
KRTCAP3 - keratinocyte associated protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001168364.1 | 5371 | Intron | NP_001161836.1 | |||
NM_001321325.1 | 5371 | Intron | NP_001308254.1 | |||
NM_173853.3 | 5371 | Intron | NP_776252.2 |
NRBP1 - nuclear receptor binding protein 1 | ||||||
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There are no transcripts associated with this gene. |