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GACAGATGAAGATGATCTTTATTCC[A/G]GCTATAATGACTACAATCCAATCTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600595 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IFT88 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
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
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
|
IFT88 - intraflagellar transport 88 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318491.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | NP_001305420.1 | |
NM_001318493.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | NP_001305422.1 | |
NM_006531.4 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | NP_006522.2 | |
NM_175605.4 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | NP_783195.2 | |
XM_005266553.2 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_005266610.1 | |
XM_006719870.3 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_006719933.1 | |
XM_011535241.2 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_011533543.1 | |
XM_011535242.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_011533544.1 | |
XM_011535243.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_011533545.1 | |
XM_017020757.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_016876246.1 | |
XM_017020758.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876247.1 | |
XM_017020759.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876248.1 | |
XM_017020760.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876249.1 | |
XM_017020761.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876250.1 | |
XM_017020762.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876251.1 | |
XM_017020763.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876252.1 | |
XM_017020764.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_016876253.1 | |
XM_017020765.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_016876254.1 | |
XM_017020766.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_016876255.1 | |
XM_017020767.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_016876256.1 | |
XM_017020768.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876257.1 | |
XM_017020769.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_016876258.1 | |
XM_017020770.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876259.1 | |
XM_017020771.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876260.1 | |
XM_017020772.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_016876261.1 | |
XM_017020773.1 | 1210 | Missense Mutation | AGC,GGC | S,G 19 | XP_016876262.1 | |
XM_017020774.1 | 1210 | UTR 5 | XP_016876263.1 | |||
XM_017020775.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876264.1 | |
XM_017020776.1 | 1210 | Missense Mutation | AGC,GGC | S,G 28 | XP_016876265.1 |