Product Details

SNP ID

rs200243693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:32488081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTCCACCAGTGAGCTGCTTCGCT[C/G]CCTGGGTGAGTTTCTCTGCCGCCGG

Phenotype

MIM: 603460 MIM: 606539 MIM: 604449

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CDK5R1 PubMed Links

Gene Details

Gene

CDK5R1

Gene Name

cyclin dependent kinase 5 regulatory subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003885.2	669	Missense Mutation	TCC,TGC	S154C	NP_003876.1
XM_011525438.2	669	Missense Mutation	TCC,TGC	S154C	XP_011523740.1
XM_017025281.1	669	Missense Mutation	TCC,TGC	S154C	XP_016880770.1

Gene

MYO1D

Gene Name

myosin ID

There are no transcripts associated with this gene.

Gene

PSMD11

Gene Name

proteasome 26S subunit, non-ATPase 11

There are no transcripts associated with this gene.

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