Product Details

SNP ID

rs2292550

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:218275565 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GCAGGGCGCCAGTGATGTAGTCCTC[C/G]GGGCTGATGGTGTGCTTCCGGTTCC

Phenotype

MIM: 603488 MIM: 609023 MIM: 610364

Polymorphism

C/G, 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	923	Intron			NP_001070867.1
NM_015488.4	923	Intron			NP_056303.3
NM_022572.4	923	Intron			NP_072094.1
XM_017003771.1	923	Intron			XP_016859260.1
XM_017003772.1	923	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	923	Silent Mutation	CCC,CCG	P282P	NP_001308356.1
NM_001321428.1	923	Silent Mutation	CCC,CCG	P282P	NP_001308357.1
NM_001321429.1	923	Silent Mutation	CCC,CCG	P282P	NP_001308358.1
NM_001321430.1	923	Silent Mutation	CCC,CCG	P282P	NP_001308359.1
NM_001321432.1	923	Silent Mutation	CCC,CCG	P282P	NP_001308361.1
NM_001321433.1	923	Silent Mutation	CCC,CCG	P282P	NP_001308362.1
NM_001321435.1	923	Silent Mutation	CCC,CCG	P282P	NP_001308364.1
NM_001321436.1	923	Silent Mutation	CCC,CCG	P282P	NP_001308365.1
NM_001321438.1	923	Silent Mutation	CCC,CCG	P171P	NP_001308367.1
NM_022152.5	923	Silent Mutation	CCC,CCG	P282P	NP_071435.2
XM_011511627.1	923	Silent Mutation	CCC,CCG	P282P	XP_011509929.1

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