Product Details

SNP ID
rs189899956
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49630587 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCGGCCCCCAGCAGCGCCTGCC[C/T]CCTTCCCACCGGGGCCCCCCATGAT
Phenotype
MIM: 616288
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FMNL3 PubMed Links

Gene Details

Gene
FMNL3
Gene Name
formin like 3
There are no transcripts associated with this gene.

Gene
PRPF40B
Gene Name
pre-mRNA processing factor 40 homolog B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031698.2 43 Missense Mutation CCC,TCC P16S NP_001026868.2
NM_012272.2 43 Intron NP_036404.1
XM_006719324.3 43 Missense Mutation CCC,CTC P87L XP_006719387.1
XM_006719325.3 43 Missense Mutation CCC,CTC P87L XP_006719388.1
XM_011538135.2 43 Missense Mutation CCC,CTC P87L XP_011536437.1
XM_011538136.2 43 Missense Mutation CCC,CTC P87L XP_011536438.1
XM_011538137.2 43 Intron XP_011536439.1
XM_011538138.2 43 Missense Mutation CCC,CTC P87L XP_011536440.1
XM_011538139.2 43 Missense Mutation CCC,TCC P16S XP_011536441.1
XM_011538140.2 43 Missense Mutation CCC,TCC P16S XP_011536442.1
XM_011538141.1 43 UTR 5 XP_011536443.1
XM_011538143.2 43 Intron XP_011536445.1
XM_011538144.2 43 UTR 5 XP_011536446.1
XM_017019135.1 43 Intron XP_016874624.1
XM_017019136.1 43 UTR 5 XP_016874625.1
XM_017019137.1 43 UTR 5 XP_016874626.1
XM_017019138.1 43 Missense Mutation CCC,CTC P87L XP_016874627.1
XM_017019139.1 43 Intron XP_016874628.1

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