Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCCTGCTGGCTGGTGGACAGGACC[C/T]GGGGAGGGCCGAGCCCTGGGGCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614620 MIM: 611002 | ||||||||||||||||||||
Literature Links: |
IFT140 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 |
IFT140 - intraflagellar transport 140 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014714.3 | 785 | Intron | NP_055529.2 | |||
XM_005255725.4 | 785 | Intron | XP_005255782.1 | |||
XM_005255726.3 | 785 | Intron | XP_005255783.1 | |||
XM_006720990.3 | 785 | Intron | XP_006721053.1 | |||
XM_006720991.3 | 785 | Intron | XP_006721054.1 | |||
XM_006720992.3 | 785 | Intron | XP_006721055.1 | |||
XM_011522766.2 | 785 | Intron | XP_011521068.1 | |||
XM_011522767.2 | 785 | Intron | XP_011521069.1 | |||
XM_011522769.2 | 785 | Intron | XP_011521071.1 | |||
XM_011522771.2 | 785 | Intron | XP_011521073.1 | |||
XM_011522772.2 | 785 | Intron | XP_011521074.1 | |||
XM_017023910.1 | 785 | Intron | XP_016879399.1 | |||
XM_017023911.1 | 785 | Intron | XP_016879400.1 |
LOC105371047 - uncharacterized LOC105371047 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_017023923.1 | 785 | Intron | XP_016879412.1 |
TMEM204 - transmembrane protein 204 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256541.1 | 785 | Missense Mutation | CGG,TGG | R,W 56 | NP_001243470.1 | |
NM_024600.5 | 785 | Missense Mutation | CGG,TGG | R,W 56 | NP_078876.2 |