Product Details

SNP ID
rs12602675
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:17213262 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CTCTTGCTGAATTTCAAAGTAGAAA[C/T]GCTTGAATGTTAACCTCGGGAGCAG
Phenotype
MIM: 607273 MIM: 614960
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FLCN PubMed Links

Gene Details

Gene
FLCN
Gene Name
folliculin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144606.5 3066 Intron NP_653207.1
NM_144997.5 3066 UTR 3 NP_659434.2
XM_011523714.2 3066 UTR 3 XP_011522016.1
XM_011523716.1 3066 UTR 3 XP_011522018.1
XM_011523718.2 3066 UTR 3 XP_011522020.1
XM_011523719.2 3066 Intron XP_011522021.1
XM_011523721.2 3066 UTR 3 XP_011522023.1
XM_017024304.1 3066 UTR 3 XP_016879793.1
XM_017024305.1 3066 UTR 3 XP_016879794.1
XM_017024306.1 3066 UTR 3 XP_016879795.1
XM_017024307.1 3066 UTR 3 XP_016879796.1
XM_017024308.1 3066 Intron XP_016879797.1
XM_017024309.1 3066 UTR 3 XP_016879798.1
Gene
PLD6
Gene Name
phospholipase D family member 6
There are no transcripts associated with this gene.

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