Product Details

SNP ID
rs1060365
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218274247 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACATTTATAGTTGTATCCCTTTG[G/T]GTGATATAGTTAGGATTTCTCTATT
Phenotype
MIM: 603488 MIM: 609023 MIM: 610364
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
AAMP PubMed Links

Gene Details

Gene
AAMP
Gene Name
angio associated migratory cell protein
There are no transcripts associated with this gene.

Gene
MIR6513
Gene Name
microRNA 6513
There are no transcripts associated with this gene.

Gene
PNKD
Gene Name
paroxysmal nonkinesigenic dyskinesia
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077399.2 2241 Intron NP_001070867.1
NM_015488.4 2241 Intron NP_056303.3
NM_022572.4 2241 Intron NP_072094.1
XM_017003771.1 2241 Intron XP_016859260.1
XM_017003772.1 2241 Intron XP_016859261.1
Gene
TMBIM1
Gene Name
transmembrane BAX inhibitor motif containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321427.1 2241 UTR 3 NP_001308356.1
NM_001321428.1 2241 UTR 3 NP_001308357.1
NM_001321429.1 2241 UTR 3 NP_001308358.1
NM_001321430.1 2241 UTR 3 NP_001308359.1
NM_001321432.1 2241 UTR 3 NP_001308361.1
NM_001321433.1 2241 UTR 3 NP_001308362.1
NM_001321435.1 2241 UTR 3 NP_001308364.1
NM_001321436.1 2241 UTR 3 NP_001308365.1
NM_001321438.1 2241 UTR 3 NP_001308367.1
NM_022152.5 2241 UTR 3 NP_071435.2
XM_011511627.1 2241 UTR 3 XP_011509929.1

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