Product Details

SNP ID

rs151181674

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:16986334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGGCCGGAGGCGGCGCAGGCAGG[C/T]GGGGAGGCACTGGTCTAGCACGCTC

Phenotype

MIM: 610513 MIM: 156790

Polymorphism

C/T, Transition 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	3467	Missense Mutation	ACC,GCC	T1139A	NP_001135445.1
NM_001141974.2	3467	Missense Mutation	CAC,CGC	H1043R	NP_001135446.1
NM_022089.3	3467	Missense Mutation	ACC,GCC	T1144A	NP_071372.1
XM_005245810.1	3467	Missense Mutation	CAC,CGC	H1086R	XP_005245867.1
XM_005245811.1	3467	Missense Mutation	CAC,CGC	H1082R	XP_005245868.1
XM_005245812.1	3467	Missense Mutation	CAC,CGC	H1078R	XP_005245869.1
XM_005245815.1	3467	Missense Mutation	CAC,CGC	H1048R	XP_005245872.1
XM_006710512.1	3467	Missense Mutation	CAC,CGC	H1081R	XP_006710575.1
XM_006710513.1	3467	Missense Mutation	CAC,CGC	H1073R	XP_006710576.1
XM_011541128.1	3467	Missense Mutation	CAC,CGC	H1082R	XP_011539430.1
XM_011541129.1	3467	Missense Mutation	CAC,CGC	H1018R	XP_011539431.1
XM_017000844.1	3467	Missense Mutation	ACC,GCC	T1139A	XP_016856333.1
XM_017000845.1	3467	Missense Mutation	ACC,GCC	T1138A	XP_016856334.1
XM_017000846.1	3467	Missense Mutation	ACC,GCC	T1130A	XP_016856335.1
XM_017000847.1	3467	Missense Mutation	ACC,GCC	T1129A	XP_016856336.1
XM_017000848.1	3467	Missense Mutation	ACC,GCC	T1105A	XP_016856337.1
XM_017000849.1	3467	Missense Mutation	ACC,GCC	T1100A	XP_016856338.1
XM_017000850.1	3467	Missense Mutation	ACC,GCC	T1075A	XP_016856339.1

Gene

MFAP2

Gene Name

microfibrillar associated protein 2

There are no transcripts associated with this gene.

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