Product Details

SNP ID
rs147395934
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:45136421 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGTGGTCATGTACAATTTCTACCG[C/T]TGGTTCCCTTCAGGAAAGGTGGTCT
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_001308133.1 482 Silent Mutation CGC,CGT R130R NP_001295062.1
NM_001308134.1 482 Silent Mutation CGC,CGT R130R NP_001295063.1
NM_020937.3 482 Silent Mutation CGC,CGT R130R NP_065988.1
XM_011537034.2 482 Silent Mutation CGC,CGT R130R XP_011535336.1
XM_011537035.2 482 Silent Mutation CGC,CGT R130R XP_011535337.1
XM_011537037.2 482 Intron XP_011535339.1
XM_017021523.1 482 Silent Mutation CGC,CGT R130R XP_016877012.1
XM_017021524.1 482 Intron XP_016877013.1
XM_017021525.1 482 UTR 5 XP_016877014.1
XM_017021526.1 482 Intron XP_016877015.1
XM_017021527.1 482 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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