Product Details

SNP ID

rs199502695

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49632858 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATCCTTTGGCTTTTTTCTAGCTG[C/T]TGTGGCTGGGACAGGCCCTCCGGTG

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	323	Missense Mutation	GCT,GTT	A109V	NP_001026868.2
NM_012272.2	323	Missense Mutation	GCT,GTT	A81V	NP_036404.1
XM_006719324.3	323	Missense Mutation	GCT,GTT	A171V	XP_006719387.1
XM_006719325.3	323	Missense Mutation	GCT,GTT	A171V	XP_006719388.1
XM_011538135.2	323	Missense Mutation	GCT,GTT	A171V	XP_011536437.1
XM_011538136.2	323	Missense Mutation	GCT,GTT	A171V	XP_011536438.1
XM_011538137.2	323	Missense Mutation	GCT,GTT	A144V	XP_011536439.1
XM_011538138.2	323	Missense Mutation	GCT,GTT	A171V	XP_011536440.1
XM_011538139.2	323	Missense Mutation	GCT,GTT	A109V	XP_011536441.1
XM_011538140.2	323	Missense Mutation	GCT,GTT	A109V	XP_011536442.1
XM_011538141.1	323	Missense Mutation	GCT,GTT	A87V	XP_011536443.1
XM_011538143.2	323	Missense Mutation	GCT,GTT	A82V	XP_011536445.1
XM_011538144.2	323	Missense Mutation	GCT,GTT	A87V	XP_011536446.1
XM_017019135.1	323	Missense Mutation	GCT,GTT	A81V	XP_016874624.1
XM_017019136.1	323	Missense Mutation	GCT,GTT	A87V	XP_016874625.1
XM_017019137.1	323	Missense Mutation	GCT,GTT	A87V	XP_016874626.1
XM_017019138.1	323	Missense Mutation	GCT,GTT	A171V	XP_016874627.1
XM_017019139.1	323	UTR 5			XP_016874628.1

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