Product Details

SNP ID

rs143619846

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:32234987 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGTTAGTATCTTTTTGATGAGGT[A/G]AATTGAAGAAGAAGGTGCTAAAAAT

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	1657	Missense Mutation	TCA,TTA	S496L	NP_001035536.1
NM_001294343.1	1657	Missense Mutation	TCA,TTA	S496L	NP_001281272.1
NM_001294344.1	1657	Intron			NP_001281273.1
XM_005248313.3	1657	Missense Mutation	TCA,TTA	S496L	XP_005248370.1
XM_011514057.1	1657	Missense Mutation	TCA,TTA	S528L	XP_011512359.1
XM_011514058.2	1657	Missense Mutation	TCA,TTA	S528L	XP_011512360.1
XM_011514059.1	1657	Intron			XP_011512361.1
XM_011514060.1	1657	Intron			XP_011512362.1
XM_017009589.1	1657	Intron			XP_016865078.1
XM_017009590.1	1657	Missense Mutation	TCA,TTA	S325L	XP_016865079.1
XM_017009591.1	1657	Missense Mutation	TCA,TTA	S325L	XP_016865080.1
XM_017009592.1	1657	Missense Mutation	TCA,TTA	S293L	XP_016865081.1
XM_017009593.1	1657	Missense Mutation	TCA,TTA	S293L	XP_016865082.1
XM_017009594.1	1657	Missense Mutation	TCA,TTA	S293L	XP_016865083.1
XM_017009595.1	1657	Missense Mutation	TCA,TTA	S293L	XP_016865084.1
XM_017009596.1	1657	Intron			XP_016865085.1

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