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GTAGAATCAATAAGAACGTGGTTTT[A/G]GCCCTTTTAACGCTGACAAGTTCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607440 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FKTN PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
FKTN - fukutin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079802.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | NP_001073270.1 | |
NM_001198963.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | NP_001185892.1 | |
NM_006731.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | NP_006722.2 | |
XM_006717014.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_006717077.1 | |
XM_011518368.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516670.1 | |
XM_011518369.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516671.1 | |
XM_011518370.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516672.1 | |
XM_011518371.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516673.1 | |
XM_011518373.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516675.1 | |
XM_011518374.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516676.1 | |
XM_011518375.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516677.1 | |
XM_011518376.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516678.1 | |
XM_011518378.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516680.1 | |
XM_011518379.2 | 394 | Intron | XP_011516681.1 | |||
XM_011518381.2 | 394 | UTR 5 | XP_011516683.1 | |||
XM_011518387.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516689.1 | |
XM_011518389.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516691.1 | |
XM_011518390.2 | 394 | Intron | XP_011516692.1 | |||
XM_011518391.2 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_011516693.1 | |
XM_017014462.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869951.1 | |
XM_017014463.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869952.1 | |
XM_017014464.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869953.1 | |
XM_017014465.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869954.1 | |
XM_017014466.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869955.1 | |
XM_017014467.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869956.1 | |
XM_017014468.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869957.1 | |
XM_017014469.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869958.1 | |
XM_017014470.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869959.1 | |
XM_017014471.1 | 394 | UTR 5 | XP_016869960.1 | |||
XM_017014472.1 | 394 | UTR 5 | XP_016869961.1 | |||
XM_017014473.1 | 394 | Intron | XP_016869962.1 | |||
XM_017014474.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869963.1 | |
XM_017014475.1 | 394 | Silent Mutation | TTA,TTG | L,L 10 | XP_016869964.1 | |
XM_017014476.1 | 394 | UTR 5 | XP_016869965.1 | |||
XM_017014477.1 | 394 | UTR 5 | XP_016869966.1 | |||
XM_017014478.1 | 394 | UTR 5 | XP_016869967.1 | |||
XM_017014479.1 | 394 | UTR 5 | XP_016869968.1 |