Product Details

SNP ID

rs200237618

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:149929861 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGAGCTGATTCAGGGGGGTCAAT[C/G]CTCCTCTAGAGAAGAGCCACACAGA

Phenotype

MIM: 605593

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MTMR11 PubMed Links

Gene Details

Gene

MTMR11

Gene Name

myotubularin related protein 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145862.1	2492	Missense Mutation	GCA,GGA	A568G	NP_001139334.1
NM_181873.3	2492	Missense Mutation	GCA,GGA	A496G	NP_870988.2
XM_006711137.1	2492	Missense Mutation	GCA,GGA	A496G	XP_006711200.1
XM_011509099.2	2492	UTR 3			XP_011507401.1

Gene

SF3B4

Gene Name

splicing factor 3b subunit 4

There are no transcripts associated with this gene.

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