Product Details

SNP ID

rs114081796

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49636846 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAACGCAAGAATCGGGAGGCCTT[C/T]CAGGTATCTTTGCTGTCCTTTCTAG

Phenotype

MIM: 616288

Polymorphism

C/T, 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	1443	Intron			NP_783863.4
NM_198900.2	1443	Intron			NP_944489.2
XM_005269218.2	1443	UTR 3			XP_005269275.1
XM_011538968.2	1443	UTR 3			XP_011537270.1
XM_011538969.2	1443	UTR 3			XP_011537271.1
XM_011538970.2	1443	UTR 3			XP_011537272.1
XM_011538971.2	1443	UTR 3			XP_011537273.1
XM_011538972.2	1443	UTR 3			XP_011537274.1
XM_011538973.2	1443	UTR 3			XP_011537275.2
XM_011538974.2	1443	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	1443	Silent Mutation	TTC,TTT	F519F	NP_001026868.2
NM_012272.2	1443	Silent Mutation	TTC,TTT	F491F	NP_036404.1
XM_006719324.3	1443	Silent Mutation	TTC,TTT	F581F	XP_006719387.1
XM_006719325.3	1443	Silent Mutation	TTC,TTT	F581F	XP_006719388.1
XM_011538135.2	1443	Silent Mutation	TTC,TTT	F581F	XP_011536437.1
XM_011538136.2	1443	Silent Mutation	TTC,TTT	F581F	XP_011536438.1
XM_011538137.2	1443	Silent Mutation	TTC,TTT	F554F	XP_011536439.1
XM_011538138.2	1443	Silent Mutation	TTC,TTT	F544F	XP_011536440.1
XM_011538139.2	1443	Silent Mutation	TTC,TTT	F519F	XP_011536441.1
XM_011538140.2	1443	Silent Mutation	TTC,TTT	F519F	XP_011536442.1
XM_011538141.1	1443	Silent Mutation	TTC,TTT	F497F	XP_011536443.1
XM_011538143.2	1443	Silent Mutation	TTC,TTT	F492F	XP_011536445.1
XM_011538144.2	1443	Silent Mutation	TTC,TTT	F460F	XP_011536446.1
XM_017019135.1	1443	Silent Mutation	TTC,TTT	F491F	XP_016874624.1
XM_017019136.1	1443	Silent Mutation	TTC,TTT	F460F	XP_016874625.1
XM_017019137.1	1443	Silent Mutation	TTC,TTT	F460F	XP_016874626.1
XM_017019138.1	1443	Silent Mutation	TTC,TTT	F581F	XP_016874627.1
XM_017019139.1	1443	Silent Mutation	TTC,TTT	F196F	XP_016874628.1

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