Product Details

SNP ID

rs76204302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:38298356 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGACCGCAAACAGTGTGGCTGGGG[G/T]ACGAGCAGCATAGAAGATATTTTTG

Phenotype

MIM: 609368

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ATL2 PubMed Links

Gene Details

Gene

ATL2

Gene Name

atlastin GTPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308076.1	1860	Missense Mutation	ACC,CCC	T456P	NP_001295005.1
XM_011533017.1	1860	Missense Mutation	ACC,CCC	T474P	XP_011531319.1
XM_011533018.2	1860	Missense Mutation	ACC,CCC	T469P	XP_011531320.1
XM_011533019.2	1860	Missense Mutation	ACC,CCC	T456P	XP_011531321.1
XM_011533020.1	1860	Missense Mutation	ACC,CCC	T420P	XP_011531322.1
XM_011533022.2	1860	Missense Mutation	ACC,CCC	T303P	XP_011531324.1
XM_011533023.2	1860	Missense Mutation	ACC,CCC	T247P	XP_011531325.1
XM_017004686.1	1860	Missense Mutation	ACC,CCC	T420P	XP_016860175.1
XM_017004687.1	1860	Missense Mutation	ACC,CCC	T420P	XP_016860176.1
XM_017004688.1	1860	Missense Mutation	ACC,CCC	T247P	XP_016860177.1

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