Product Details

SNP ID
rs11552307
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81540830 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGCCCGCCTGGTCACAGCAGGA[G/T]GAGGCTGGGGTGGCGCAGCTGCCGG
Phenotype
MIM: 611301 MIM: 607643
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FAAP100 PubMed Links

Gene Details

Gene
FAAP100
Gene Name
Fanconi anemia core complex associated protein 100
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025161.5 2708 Missense Mutation ATC,CTC I879L NP_079437.5
XM_006722111.2 2708 Missense Mutation ATC,CTC I741L XP_006722174.1
XM_006722112.3 2708 Missense Mutation ATC,CTC I728L XP_006722175.1
XM_017025162.1 2708 Missense Mutation ATC,CTC I728L XP_016880651.1
XM_017025163.1 2708 Missense Mutation ATC,CTC I728L XP_016880652.1
Gene
FSCN2
Gene Name
fascin actin-bundling protein 2, retinal
There are no transcripts associated with this gene.

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