Product Details

SNP ID

rs199873388

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:32230136 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGATTTCGGGCCCCTCGATATGC[A/G]GTAACAACAAACCATGGTAGTCAGT

Phenotype

MIM: 606501

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MTMR12 PubMed Links

Gene Details

Gene

MTMR12

Gene Name

myotubularin related protein 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040446.2	1726	Missense Mutation	CCG,CTG	P629L	NP_001035536.1
NM_001294343.1	1726	Missense Mutation	CCG,CTG	P575L	NP_001281272.1
NM_001294344.1	1726	Missense Mutation	CCG,CTG	P519L	NP_001281273.1
XM_005248313.3	1726	Missense Mutation	CCG,CTG	P649L	XP_005248370.1
XM_011514057.1	1726	Missense Mutation	CCG,CTG	P681L	XP_011512359.1
XM_011514058.2	1726	Missense Mutation	CCG,CTG	P661L	XP_011512360.1
XM_011514059.1	1726	Missense Mutation	CCG,CTG	P625L	XP_011512361.1
XM_011514060.1	1726	Missense Mutation	CCG,CTG	P551L	XP_011512362.1
XM_017009589.1	1726	Missense Mutation	CCG,CTG	P573L	XP_016865078.1
XM_017009590.1	1726	Missense Mutation	CCG,CTG	P478L	XP_016865079.1
XM_017009591.1	1726	Missense Mutation	CCG,CTG	P478L	XP_016865080.1
XM_017009592.1	1726	Missense Mutation	CCG,CTG	P446L	XP_016865081.1
XM_017009593.1	1726	Missense Mutation	CCG,CTG	P426L	XP_016865082.1
XM_017009594.1	1726	Missense Mutation	CCG,CTG	P426L	XP_016865083.1
XM_017009595.1	1726	Missense Mutation	CCG,CTG	P426L	XP_016865084.1
XM_017009596.1	1726	Missense Mutation	CCG,CTG	P370L	XP_016865085.1

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