Product Details

SNP ID

rs142580715

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:33410142 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGATCCTCCCAGCACACCTGTAGA[C/T]ACCTCCTGCACACCCTCGGCGGCCC

Phenotype

MIM: 608200 MIM: 601017

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CDK5RAP1 PubMed Links

Gene Details

Gene

CDK5RAP1

Gene Name

CDK5 regulatory subunit associated protein 1

There are no transcripts associated with this gene.

Gene

SNTA1

Gene Name

syntrophin alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003098.2	1463	Silent Mutation	GTA,GTG	V410V	NP_003089.1
XM_005260517.1	1463	Silent Mutation	GTA,GTG	V410V	XP_005260574.1
XM_011529007.1	1463	Silent Mutation	GTA,GTG	V410V	XP_011527309.1
XM_011529008.1	1463	Silent Mutation	GTA,GTG	V410V	XP_011527310.1

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