Product Details

SNP ID

rs397514694

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:161350205 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTGCGGACACTTCATGTGCATG[A/C]AGCCTCCTGTTGGGGGCAGAAAACA

Phenotype

MIM: 602544

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PARK2 PubMed Links

Gene Details

Gene

PARK2

Gene Name

parkin RBR E3 ubiquitin protein ligase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004562.2	1423	Missense Mutation	TGC,TTC	C431F	NP_004553.2
NM_013987.2	1423	Missense Mutation	TGC,TTC	C403F	NP_054642.2
NM_013988.2	1423	Missense Mutation	TGC,TTC	C282F	NP_054643.2
XM_011535863.1	1423	Missense Mutation	TGC,TTC	C430F	XP_011534165.1
XM_017010908.1	1423	Missense Mutation	TGC,TTC	C469F	XP_016866397.1
XM_017010909.1	1423	Missense Mutation	TGC,TTC	C351F	XP_016866398.1

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