Product Details

SNP ID

rs149054908

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49631920 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGATGCCAGCGGTGCCTGTCACC[A/G]CAGCGGTAAGCACTAGGGGCCAGCA

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	286	Missense Mutation	ACA,GCA	T97A	NP_001026868.2
NM_012272.2	286	Missense Mutation	ACA,GCA	T69A	NP_036404.1
XM_006719324.3	286	Missense Mutation	CAC,CGC	H168R	XP_006719387.1
XM_006719325.3	286	Missense Mutation	CAC,CGC	H168R	XP_006719388.1
XM_011538135.2	286	Missense Mutation	CAC,CGC	H168R	XP_011536437.1
XM_011538136.2	286	Missense Mutation	CAC,CGC	H168R	XP_011536438.1
XM_011538137.2	286	Missense Mutation	CAC,CGC	H141R	XP_011536439.1
XM_011538138.2	286	Missense Mutation	CAC,CGC	H168R	XP_011536440.1
XM_011538139.2	286	Missense Mutation	ACA,GCA	T97A	XP_011536441.1
XM_011538140.2	286	Missense Mutation	ACA,GCA	T97A	XP_011536442.1
XM_011538141.1	286	Missense Mutation	ACA,GCA	T75A	XP_011536443.1
XM_011538143.2	286	Missense Mutation	ACA,GCA	T70A	XP_011536445.1
XM_011538144.2	286	Missense Mutation	ACA,GCA	T75A	XP_011536446.1
XM_017019135.1	286	Missense Mutation	ACA,GCA	T69A	XP_016874624.1
XM_017019136.1	286	Missense Mutation	ACA,GCA	T75A	XP_016874625.1
XM_017019137.1	286	Missense Mutation	ACA,GCA	T75A	XP_016874626.1
XM_017019138.1	286	Missense Mutation	CAC,CGC	H168R	XP_016874627.1
XM_017019139.1	286	Intron			XP_016874628.1

View Full Product Details