Product Details

SNP ID

rs137853967

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:16986864 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGACACGGCTGCAGCCAGGATG[C/A]GGTACTGGAAGCTGGACAGAGAGAA

Phenotype

MIM: 610513 MIM: 156790

Polymorphism

C/A, Transversion substitution

Allele Nomenclature

Literature Links

ATP13A2 PubMed Links

Gene Details

Gene

ATP13A2

Gene Name

ATPase 13A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001141973.2	3383	Missense Mutation	CGC,CTC	R1054L	NP_001135445.1
NM_001141974.2	3383	Missense Mutation	CGC,CTC	R1015L	NP_001135446.1
NM_022089.3	3383	Missense Mutation	CGC,CTC	R1059L	NP_071372.1
XM_005245810.1	3383	Missense Mutation	CGC,CTC	R1058L	XP_005245867.1
XM_005245811.1	3383	Missense Mutation	CGC,CTC	R1054L	XP_005245868.1
XM_005245812.1	3383	Missense Mutation	CGC,CTC	R1050L	XP_005245869.1
XM_005245815.1	3383	Missense Mutation	CGC,CTC	R1020L	XP_005245872.1
XM_006710512.1	3383	Missense Mutation	CGC,CTC	R1053L	XP_006710575.1
XM_006710513.1	3383	Missense Mutation	CGC,CTC	R1045L	XP_006710576.1
XM_011541128.1	3383	Missense Mutation	CGC,CTC	R1054L	XP_011539430.1
XM_011541129.1	3383	Missense Mutation	CGC,CTC	R990L	XP_011539431.1
XM_017000844.1	3383	Missense Mutation	CGC,CTC	R1054L	XP_016856333.1
XM_017000845.1	3383	Missense Mutation	CGC,CTC	R1053L	XP_016856334.1
XM_017000846.1	3383	Missense Mutation	CGC,CTC	R1045L	XP_016856335.1
XM_017000847.1	3383	Missense Mutation	CGC,CTC	R1044L	XP_016856336.1
XM_017000848.1	3383	Missense Mutation	CGC,CTC	R1020L	XP_016856337.1
XM_017000849.1	3383	Missense Mutation	CGC,CTC	R1015L	XP_016856338.1
XM_017000850.1	3383	Missense Mutation	CGC,CTC	R990L	XP_016856339.1

Gene

MFAP2

Gene Name

microfibrillar associated protein 2

There are no transcripts associated with this gene.

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