Product Details

SNP ID

rs28477404

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:23136103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCGGTTCAGCTTGCTCGCCGCTG[A/C]CGAGCGGGGCGGCTGCATCGCGCTC

Phenotype

MIM: 609194

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CABLES1 PubMed Links

Gene Details

Gene

CABLES1

Gene Name

Cdk5 and Abl enzyme substrate 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100619.2	341	Missense Mutation	GAC,GCC	D114A	NP_001094089.1
NM_001256438.1	341	Intron			NP_001243367.1
NM_138375.2	341	Intron			NP_612384.1

Gene

LOC105372022

Gene Name

uncharacterized LOC105372022

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011526281.2	341	Intron			XP_011524583.1
XM_011526282.2	341	Intron			XP_011524584.1

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