Product Details

SNP ID

rs201478011

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:149929196 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTCAGTGGGATTGAGAATGGTA[C/T]GTGGATCTCTTTTCTTGGAGTGATC

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	3157	Missense Mutation	CAT,CGT	H688R	NP_001139334.1
NM_181873.3	3157	Missense Mutation	CAT,CGT	H616R	NP_870988.2
XM_006711137.1	3157	Missense Mutation	CAT,CGT	H616R	XP_006711200.1
XM_011509099.2	3157	UTR 3			XP_011507401.1

Gene

SF3B4

Gene Name

splicing factor 3b subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005850.4	3157	Intron			NP_005841.1

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