Product Details

SNP ID

rs200882583

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:771356 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACTGAAGCAGGCGCCCGAATCC[A/T]TCACGAAGTCCTCCACCACGAGCGG

Phenotype

MIM: 602063

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

LOC171391 PubMed Links

Gene Details

Gene

LOC171391

Gene Name

uncharacterized LOC171391

There are no transcripts associated with this gene.

Gene

PDDC1

Gene Name

Parkinson disease 7 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318818.1	587	Missense Mutation	AAG,ATG	K124M	NP_001305747.1
NM_001318820.1	587	Missense Mutation	AAG,ATG	K138M	NP_001305749.1
NM_001318821.1	587	Missense Mutation	AAG,ATG	K174M	NP_001305750.1
NM_001318822.1	587	Missense Mutation	AAG,ATG	K88M	NP_001305751.1
NM_001318823.1	587	Missense Mutation	AAG,ATG	K124M	NP_001305752.1
NM_001318824.1	587	Missense Mutation	AAG,ATG	K138M	NP_001305753.1
NM_182612.3	587	Missense Mutation	AAG,ATG	K174M	NP_872418.1
XM_005252898.2	587	UTR 3			XP_005252955.1
XM_011520064.1	587	Missense Mutation	AAG,ATG	K174M	XP_011518366.1
XM_017017660.1	587	Missense Mutation	AAG,ATG	K174M	XP_016873149.1
XM_017017661.1	587	Missense Mutation	AAG,ATG	K174M	XP_016873150.1
XM_017017662.1	587	Intron			XP_016873151.1
XM_017017663.1	587	Missense Mutation	AAG,ATG	K138M	XP_016873152.1
XM_017017664.1	587	UTR 3			XP_016873153.1
XM_017017665.1	587	UTR 3			XP_016873154.1
XM_017017666.1	587	Missense Mutation	AAG,ATG	K124M	XP_016873155.1
XM_017017667.1	587	UTR 3			XP_016873156.1
XM_017017668.1	587	Missense Mutation	AAG,ATG	K124M	XP_016873157.1

Gene

TALDO1

Gene Name

transaldolase 1

There are no transcripts associated with this gene.

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