Product Details

SNP ID
rs142158551
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:23237158 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCTTCAGGTAGTGACCTGGGAGA[C/G]TTTATGGACTATGACCCAAATCTCT
Phenotype
MIM: 609194 MIM: 615430
Polymorphism
C/G, 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_001100619.2 621 Missense Mutation GAC,GAG D453E NP_001094089.1
NM_001256438.1 621 Missense Mutation GAC,GAG D126E NP_001243367.1
NM_138375.2 621 Missense Mutation GAC,GAG D188E NP_612384.1
Gene
TMEM241
Gene Name
transmembrane protein 241
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318834.1 621 Intron NP_001305763.1
NM_032933.5 621 Intron NP_116322.3
XM_011526233.2 621 Intron XP_011524535.1
XM_017026043.1 621 Intron XP_016881532.1
XM_017026044.1 621 Intron XP_016881533.1
XM_017026045.1 621 Intron XP_016881534.1
XM_017026046.1 621 Intron XP_016881535.1
XM_017026047.1 621 Intron XP_016881536.1
XM_017026048.1 621 Intron XP_016881537.1
XM_017026049.1 621 Intron XP_016881538.1
XM_017026050.1 621 Intron XP_016881539.1
XM_017026051.1 621 Intron XP_016881540.1

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