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AAGGAGCCCTTTAGGAAGAACTATA[A/C]TTTAATCACGTTTGATTCCTTGGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605489 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IFT81 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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IFT81 - intraflagellar transport 81 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143779.1 | 305 | Missense Mutation | AAT,ACT | N,T 22 | NP_001137251.1 | |
NM_014055.3 | 305 | Missense Mutation | AAT,ACT | N,T 22 | NP_054774.2 | |
NM_031473.3 | 305 | Missense Mutation | AAT,ACT | N,T 22 | NP_113661.2 | |
XM_011538232.2 | 305 | Missense Mutation | AAT,ACT | N,T 22 | XP_011536534.1 | |
XM_017019217.1 | 305 | Missense Mutation | AAT,ACT | N,T 22 | XP_016874706.1 | |
XM_017019218.1 | 305 | UTR 5 | XP_016874707.1 |