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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