Product Details

SNP ID

rs202079010

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:17847700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGGCCAGAAGGGTTTGAGGCTG[G/T]GGCAGGAGCCTCCATGGGGGGCGAG

Phenotype

MIM: 615519

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

TOM1L2 PubMed Links

Gene Details

Gene

TOM1L2

Gene Name

target of myb1 like 2 membrane trafficking protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033551.2	1345	Missense Mutation	ACA,CCA	T437P	NP_001028723.1
NM_001082968.1	1345	Missense Mutation	ACA,CCA	T487P	NP_001076437.1
NM_001288786.1	1345	Missense Mutation	ACA,CCA	T463P	NP_001275715.1
NM_001288787.1	1345	Missense Mutation	ACA,CCA	T442P	NP_001275716.1
NM_001288788.1	1345	Missense Mutation	ACA,CCA	T369P	NP_001275717.1
NM_001288789.1	1345	Missense Mutation	ACA,CCA	T368P	NP_001275718.1
XM_005256461.2	1345	Missense Mutation	ACA,CCA	T516P	XP_005256518.1
XM_005256462.1	1345	Missense Mutation	ACA,CCA	T471P	XP_005256519.1
XM_005256463.2	1345	Missense Mutation	ACA,CCA	T467P	XP_005256520.1
XM_005256466.1	1345	Missense Mutation	ACA,CCA	T418P	XP_005256523.1
XM_011523662.1	1345	Missense Mutation	ACA,CCA	T466P	XP_011521964.1
XM_017024201.1	1345	Missense Mutation	ACA,CCA	T422P	XP_016879690.1

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