Product Details

SNP ID

rs115070660

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:149926400 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGTGGAGGAAGCCCAGACCCCA[A/G]TGATGATACCACAGGATTGGGAGCA

Phenotype

MIM: 605593 MIM: 185860

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MTMR11 PubMed Links

Gene Details

Gene

MTMR11

Gene Name

myotubularin related protein 11

There are no transcripts associated with this gene.

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	1175	Silent Mutation	CTG,TTG	L228L	NP_005841.1

Gene

SV2A

Gene Name

synaptic vesicle glycoprotein 2A

There are no transcripts associated with this gene.

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