Product Details

SNP ID
rs202075390
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49636809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGAACGGGAGCGGGCCCGGCTTC[A/G]GGAGCGACGCCAACAACGCAAGAAT
Phenotype
MIM: 616288
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
FMNL3 PubMed Links

Gene Details

Gene
FMNL3
Gene Name
formin like 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_175736.4 1406 Intron NP_783863.4
NM_198900.2 1406 Intron NP_944489.2
XM_005269218.2 1406 UTR 3 XP_005269275.1
XM_011538968.2 1406 UTR 3 XP_011537270.1
XM_011538969.2 1406 UTR 3 XP_011537271.1
XM_011538970.2 1406 UTR 3 XP_011537272.1
XM_011538971.2 1406 UTR 3 XP_011537273.1
XM_011538972.2 1406 UTR 3 XP_011537274.1
XM_011538973.2 1406 UTR 3 XP_011537275.2
XM_011538974.2 1406 UTR 3 XP_011537276.1
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 1406 Missense Mutation CAG,CGG Q507R NP_001026868.2
NM_012272.2 1406 Missense Mutation CAG,CGG Q479R NP_036404.1
XM_006719324.3 1406 Missense Mutation CAG,CGG Q569R XP_006719387.1
XM_006719325.3 1406 Missense Mutation CAG,CGG Q569R XP_006719388.1
XM_011538135.2 1406 Missense Mutation CAG,CGG Q569R XP_011536437.1
XM_011538136.2 1406 Missense Mutation CAG,CGG Q569R XP_011536438.1
XM_011538137.2 1406 Missense Mutation CAG,CGG Q542R XP_011536439.1
XM_011538138.2 1406 Missense Mutation CAG,CGG Q532R XP_011536440.1
XM_011538139.2 1406 Missense Mutation CAG,CGG Q507R XP_011536441.1
XM_011538140.2 1406 Missense Mutation CAG,CGG Q507R XP_011536442.1
XM_011538141.1 1406 Missense Mutation CAG,CGG Q485R XP_011536443.1
XM_011538143.2 1406 Missense Mutation CAG,CGG Q480R XP_011536445.1
XM_011538144.2 1406 Missense Mutation CAG,CGG Q448R XP_011536446.1
XM_017019135.1 1406 Missense Mutation CAG,CGG Q479R XP_016874624.1
XM_017019136.1 1406 Missense Mutation CAG,CGG Q448R XP_016874625.1
XM_017019137.1 1406 Missense Mutation CAG,CGG Q448R XP_016874626.1
XM_017019138.1 1406 Missense Mutation CAG,CGG Q569R XP_016874627.1
XM_017019139.1 1406 Missense Mutation CAG,CGG Q184R XP_016874628.1

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