Product Details

SNP ID
rs201383385
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:45136087 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGTGGGGCTCAAGTATCTCCCGAT[C/T]ATCTGGGACTCCGGGTTGCAGCTCC
Phenotype
MIM: 609644 MIM: 186947
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FANCM PubMed Links

Gene Details

Gene
FANCM
Gene Name
Fanconi anemia complementation group M
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308133.1 148 Missense Mutation TCA,TTA S19L NP_001295062.1
NM_001308134.1 148 Missense Mutation TCA,TTA S19L NP_001295063.1
NM_020937.3 148 Missense Mutation TCA,TTA S19L NP_065988.1
XM_011537034.2 148 Missense Mutation TCA,TTA S19L XP_011535336.1
XM_011537035.2 148 Missense Mutation TCA,TTA S19L XP_011535337.1
XM_011537037.2 148 Intron XP_011535339.1
XM_017021523.1 148 Missense Mutation TCA,TTA S19L XP_016877012.1
XM_017021524.1 148 Intron XP_016877013.1
XM_017021525.1 148 UTR 5 XP_016877014.1
XM_017021526.1 148 Intron XP_016877015.1
XM_017021527.1 148 UTR 5 XP_016877016.1
Gene
FKBP3
Gene Name
FK506 binding protein 3
There are no transcripts associated with this gene.

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