Product Details

SNP ID

rs200719544

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:772518 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACACCGTGGCCGACGGCGCAGATG[C/G]GTTCTGAAAGCCGTACATGGCGTTG

Phenotype

MIM: 602063

Polymorphism

C/G, 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	384	Missense Mutation	CCC,CGC	P70R	NP_001305747.1
NM_001318820.1	384	Missense Mutation	CCC,CGC	P84R	NP_001305749.1
NM_001318821.1	384	Missense Mutation	CCC,CGC	P120R	NP_001305750.1
NM_001318822.1	384	Missense Mutation	CCC,CGC	P34R	NP_001305751.1
NM_001318823.1	384	Missense Mutation	CCC,CGC	P70R	NP_001305752.1
NM_001318824.1	384	Missense Mutation	CCC,CGC	P84R	NP_001305753.1
NM_182612.3	384	Missense Mutation	CCC,CGC	P120R	NP_872418.1
XM_005252898.2	384	Missense Mutation	CCC,CGC	P120R	XP_005252955.1
XM_011520064.1	384	Missense Mutation	CCC,CGC	P120R	XP_011518366.1
XM_017017660.1	384	Missense Mutation	CCC,CGC	P120R	XP_016873149.1
XM_017017661.1	384	Missense Mutation	CCC,CGC	P120R	XP_016873150.1
XM_017017662.1	384	Missense Mutation	CCC,CGC	P120R	XP_016873151.1
XM_017017663.1	384	Missense Mutation	CCC,CGC	P84R	XP_016873152.1
XM_017017664.1	384	Missense Mutation	CCC,CGC	P120R	XP_016873153.1
XM_017017665.1	384	Missense Mutation	CCC,CGC	P120R	XP_016873154.1
XM_017017666.1	384	Missense Mutation	CCC,CGC	P70R	XP_016873155.1
XM_017017667.1	384	Missense Mutation	CCC,CGC	P84R	XP_016873156.1
XM_017017668.1	384	Missense Mutation	CCC,CGC	P70R	XP_016873157.1

Gene

TALDO1

Gene Name

transaldolase 1

There are no transcripts associated with this gene.

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