Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGCGGACCTGCTCGGGGACGGTGC[A/G]TGGCAGTGGGAGACCCAGCCCCCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614620 MIM: 611140 | ||||||||||||||||||||
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 | 3379 | Missense Mutation | CGC,TGC | R,C 1433 | NP_055529.2 | |
XM_005255725.4 | 3379 | Intron | XP_005255782.1 | |||
XM_005255726.3 | 3379 | Intron | XP_005255783.1 | |||
XM_006720990.3 | 3379 | Missense Mutation | CGC,TGC | R,C 1433 | XP_006721053.1 | |
XM_006720991.3 | 3379 | Missense Mutation | CGC,TGC | R,C 1433 | XP_006721054.1 | |
XM_006720992.3 | 3379 | Missense Mutation | CGC,TGC | R,C 644 | XP_006721055.1 | |
XM_011522766.2 | 3379 | Missense Mutation | CGC,TGC | R,C 1351 | XP_011521068.1 | |
XM_011522767.2 | 3379 | Missense Mutation | CGC,TGC | R,C 1108 | XP_011521069.1 | |
XM_011522769.2 | 3379 | Intron | XP_011521071.1 | |||
XM_011522771.2 | 3379 | Intron | XP_011521073.1 | |||
XM_011522772.2 | 3379 | Intron | XP_011521074.1 | |||
XM_017023910.1 | 3379 | Missense Mutation | CGC,TGC | R,C 1433 | XP_016879399.1 | |
XM_017023911.1 | 3379 | Missense Mutation | CGC,TGC | R,C 828 | XP_016879400.1 |
TELO2 - telomere maintenance 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016111.3 | 3379 | Intron | NP_057195.2 | |||
XM_011522773.2 | 3379 | Intron | XP_011521075.1 | |||
XM_011522774.2 | 3379 | Intron | XP_011521076.1 | |||
XM_011522775.2 | 3379 | Intron | XP_011521077.1 | |||
XM_011522776.2 | 3379 | Intron | XP_011521078.1 | |||
XM_011522777.2 | 3379 | Intron | XP_011521079.1 | |||
XM_011522778.2 | 3379 | Intron | XP_011521080.1 | |||
XM_017023914.1 | 3379 | Intron | XP_016879403.1 |