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GCTTATGATAACTCATATTGTAAAC[A/C]AGAACTTCAAATCCTATGCTGGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611177 MIM: 605575 | ||||||||||||||||||||
Literature Links: |
IFT80 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
IFT80 - intraflagellar transport 80 | ||||||
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There are no transcripts associated with this gene. |
MIR15B - microRNA 15b | ||||||
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There are no transcripts associated with this gene. |
MIR16-2 - microRNA 16-2 | ||||||
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There are no transcripts associated with this gene. |
SMC4 - structural maintenance of chromosomes 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002800.2 | 489 | Missense Mutation | AAG,CAG | K,Q 90 | NP_001002800.1 | |
NM_001288753.1 | 489 | Missense Mutation | AAG,CAG | K,Q 65 | NP_001275682.1 | |
NM_005496.3 | 489 | Missense Mutation | AAG,CAG | K,Q 90 | NP_005487.3 | |
XM_006713459.3 | 489 | Missense Mutation | AAG,CAG | K,Q 90 | XP_006713522.1 | |
XM_011512311.2 | 489 | Missense Mutation | AAG,CAG | K,Q 90 | XP_011510613.1 | |
XM_011512312.2 | 489 | Missense Mutation | AAG,CAG | K,Q 18 | XP_011510614.1 | |
XM_017005491.1 | 489 | UTR 5 | XP_016860980.1 |