Product Details

SNP ID

rs201225347

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:149944207 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGGCACTGTCTGGGGAAGGTGG[C/T]ATATGGTGGTAGGCCCCCGACACAT

Phenotype

MIM: 611748

Polymorphism

C/T, 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

OTUD7B

Gene Name

OTU deubiquitinase 7B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020205.3	2280	Missense Mutation	ACC,GCC	T728A	NP_064590.2
XM_011509782.1	2280	Missense Mutation	ACC,GCC	T737A	XP_011508084.1
XM_011509783.2	2280	Missense Mutation	ACC,GCC	T737A	XP_011508085.1
XM_011509784.2	2280	Missense Mutation	ACC,GCC	T737A	XP_011508086.1
XM_011509785.2	2280	Missense Mutation	ACC,GCC	T737A	XP_011508087.1
XM_011509786.1	2280	Missense Mutation	ACC,GCC	T658A	XP_011508088.1
XM_011509787.1	2280	Missense Mutation	ACC,GCC	T658A	XP_011508089.1
XM_011509788.1	2280	Missense Mutation	ACC,GCC	T658A	XP_011508090.1
XM_017001850.1	2280	Missense Mutation	ACC,GCC	T649A	XP_016857339.1
XM_017001851.1	2280	Missense Mutation	ACC,GCC	T599A	XP_016857340.1

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