Product Details

SNP ID

rs145959705

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:149929654 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAGGCCTTCCCCTCAGGTAGCAG[C/T]GTCTCCAGAGCCTGATCTGGGGTCC

Phenotype

MIM: 605593

Polymorphism

C/T, Transition 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	2699	Missense Mutation	CAC,CGC	H637R	NP_001139334.1
NM_181873.3	2699	Missense Mutation	CAC,CGC	H565R	NP_870988.2
XM_006711137.1	2699	Missense Mutation	CAC,CGC	H565R	XP_006711200.1
XM_011509099.2	2699	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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