Product Details

SNP ID
rs114198494
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49633053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGCATGTGGCCCCAGATGGGCGC[A/G]TCTACTACTACAATGCTGACGACAA
Phenotype
MIM: 616288
Polymorphism
A/G, 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 1619 Missense Mutation ATC,GTC I130V NP_001026868.2
NM_012272.2 1619 Missense Mutation ATC,GTC I102V NP_036404.1
XM_006719324.3 1619 Missense Mutation ATC,GTC I192V XP_006719387.1
XM_006719325.3 1619 Missense Mutation ATC,GTC I192V XP_006719388.1
XM_011538135.2 1619 Missense Mutation ATC,GTC I192V XP_011536437.1
XM_011538136.2 1619 Missense Mutation ATC,GTC I192V XP_011536438.1
XM_011538137.2 1619 Missense Mutation ATC,GTC I165V XP_011536439.1
XM_011538138.2 1619 Intron XP_011536440.1
XM_011538139.2 1619 Missense Mutation ATC,GTC I130V XP_011536441.1
XM_011538140.2 1619 Missense Mutation ATC,GTC I130V XP_011536442.1
XM_011538141.1 1619 Missense Mutation ATC,GTC I108V XP_011536443.1
XM_011538143.2 1619 Missense Mutation ATC,GTC I103V XP_011536445.1
XM_011538144.2 1619 Intron XP_011536446.1
XM_017019135.1 1619 Missense Mutation ATC,GTC I102V XP_016874624.1
XM_017019136.1 1619 Intron XP_016874625.1
XM_017019137.1 1619 Intron XP_016874626.1
XM_017019138.1 1619 Missense Mutation ATC,GTC I192V XP_016874627.1
XM_017019139.1 1619 UTR 5 XP_016874628.1

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