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CCGAGACTCCGAGGCTGTGGGGCTG[C/T]GGACCGTGGACATGAGGTGTGACTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607273 MIM: 614960 | ||||||||||||||||||||
Literature Links: |
FLCN 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 |
FLCN - folliculin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144606.5 | 2642 | Intron | NP_653207.1 | |||
NM_144997.5 | 2642 | Missense Mutation | NP_659434.2 | |||
XM_011523714.2 | 2642 | Missense Mutation | XP_011522016.1 | |||
XM_011523716.1 | 2642 | Missense Mutation | XP_011522018.1 | |||
XM_011523718.2 | 2642 | Missense Mutation | XP_011522020.1 | |||
XM_011523719.2 | 2642 | Intron | XP_011522021.1 | |||
XM_011523721.2 | 2642 | Missense Mutation | XP_011522023.1 | |||
XM_017024304.1 | 2642 | Missense Mutation | XP_016879793.1 | |||
XM_017024305.1 | 2642 | Missense Mutation | XP_016879794.1 | |||
XM_017024306.1 | 2642 | Missense Mutation | XP_016879795.1 | |||
XM_017024307.1 | 2642 | Missense Mutation | XP_016879796.1 | |||
XM_017024308.1 | 2642 | Missense Mutation | XP_016879797.1 | |||
XM_017024309.1 | 2642 | Missense Mutation | XP_016879798.1 |
PLD6 - phospholipase D family member 6 | ||||||
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There are no transcripts associated with this gene. |