Product Details

SNP ID

rs202226147

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:23136509 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCGTTCACTCAGGGAATCCTGCC[C/T]ATCGCCTTCTCCAGGCCGACTTCGC

Phenotype

MIM: 609194

Polymorphism

C/T, Transition 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	747	Silent Mutation	CCC,CCT	P249P	NP_001094089.1
NM_001256438.1	747	Intron			NP_001243367.1
NM_138375.2	747	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	747	Intron			XP_011524583.1
XM_011526282.2	747	Intron			XP_011524584.1

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