Product Details

SNP ID

rs147468433

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58520832 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGGGAAGTCGGTACCACTTTCCC[A/G]AGTCAGTTTGCTAAAGGGAGAAAAG

Phenotype

MIM: 603559 MIM: 603696

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MTMR4 PubMed Links

Gene Details

Gene

MTMR4

Gene Name

myotubularin related protein 4

There are no transcripts associated with this gene.

Gene

SEPT4

Gene Name

septin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198713.1	1095	Missense Mutation	CGG,TGG	R422W	NP_001185642.1
NM_001256782.1	1095	Missense Mutation	CGG,TGG	R445W	NP_001243711.1
NM_001256822.1	1095	Missense Mutation	CGG,TGG	R283W	NP_001243751.1
NM_004574.4	1095	Missense Mutation	CGG,TGG	R430W	NP_004565.1
NM_080415.3	1095	UTR 3			NP_536340.1
NM_080416.3	1095	Missense Mutation	CGG,TGG	R411W	NP_536341.1
XM_006721949.2	1095	Missense Mutation	CGG,TGG	R435W	XP_006722012.1
XM_006721950.3	1095	Missense Mutation	CGG,TGG	R336W	XP_006722013.1
XM_006721951.2	1095	Missense Mutation	CGG,TGG	R331W	XP_006722014.1
XM_006721952.2	1095	Missense Mutation	CGG,TGG	R312W	XP_006722015.1
XM_006721954.2	1095	Missense Mutation	CGG,TGG	R283W	XP_006722017.1
XM_006721955.2	1095	Missense Mutation	CGG,TGG	R283W	XP_006722018.1
XM_011524911.1	1095	Missense Mutation	CGG,TGG	R283W	XP_011523213.1
XM_011524912.1	1095	Missense Mutation	CGG,TGG	R283W	XP_011523214.1

Gene

SEPT4-AS1

Gene Name

SEPT4 antisense RNA 1

There are no transcripts associated with this gene.

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