Product Details

SNP ID

rs146671297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:33359046 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTGAGGCCATCCTCTCAGGTCA[C/G]CAATATGCAGAAGAGTCCCTCAGAG

Phenotype

MIM: 608200

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CDK5RAP1 PubMed Links

Gene Details

Gene

CDK5RAP1

Gene Name

CDK5 regulatory subunit associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278167.1	987	Missense Mutation	TGC,TGG	C586W	NP_001265096.1
NM_001278168.1	987	Missense Mutation	TGC,TGG	C510W	NP_001265097.1
NM_001278169.1	987	Missense Mutation	TGC,TGG	C560W	NP_001265098.1
NM_016082.4	987	Missense Mutation	TGC,TGG	C588W	NP_057166.4
NM_016408.3	987	Missense Mutation	TGC,TGG	C587W	NP_057492.2
XM_011528856.2	987	Missense Mutation	TGC,TGG	C483W	XP_011527158.1
XM_011528857.2	987	Missense Mutation	TGC,TGG	C477W	XP_011527159.1
XM_011528858.1	987	Missense Mutation	TGC,TGG	C460W	XP_011527160.1
XM_011528859.2	987	Missense Mutation	TGC,TGG	C460W	XP_011527161.1
XM_011528860.1	987	Missense Mutation	TGC,TGG	C333W	XP_011527162.1
XM_017027876.1	987	Missense Mutation	TGC,TGG	C333W	XP_016883365.1
XM_017027877.1	987	Missense Mutation	TGC,TGG	C321W	XP_016883366.1

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