Product Details

SNP ID

rs143173370

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218275482 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATGGGGGCTTGCTCCTTAATTG[C/T]GATCCCCCATCAGCTGCAGCACAAA

Phenotype

MIM: 603488 MIM: 609023 MIM: 610364

Polymorphism

C/T, Transition 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	1006	Intron			NP_001070867.1
NM_015488.4	1006	Intron			NP_056303.3
NM_022572.4	1006	Intron			NP_072094.1
XM_017003771.1	1006	Intron			XP_016859260.1
XM_017003772.1	1006	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	1006	Missense Mutation	CAC,CGC	H310R	NP_001308356.1
NM_001321428.1	1006	Missense Mutation	CAC,CGC	H310R	NP_001308357.1
NM_001321429.1	1006	Missense Mutation	CAC,CGC	H310R	NP_001308358.1
NM_001321430.1	1006	Missense Mutation	CAC,CGC	H310R	NP_001308359.1
NM_001321432.1	1006	Missense Mutation	CAC,CGC	H310R	NP_001308361.1
NM_001321433.1	1006	Missense Mutation	CAC,CGC	H310R	NP_001308362.1
NM_001321435.1	1006	Missense Mutation	CAC,CGC	H310R	NP_001308364.1
NM_001321436.1	1006	Missense Mutation	CAC,CGC	H310R	NP_001308365.1
NM_001321438.1	1006	Missense Mutation	CAC,CGC	H199R	NP_001308367.1
NM_022152.5	1006	Missense Mutation	CAC,CGC	H310R	NP_071435.2
XM_011511627.1	1006	Missense Mutation	CAC,CGC	H310R	XP_011509929.1

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