Product Details

SNP ID

rs767891

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:23239092 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTTTTTTATCTGATCTTTTTTTT[C/T]TTTAAATGATTTCATTGTGAGCCTT

Phenotype

MIM: 609194 MIM: 615430

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		Intron			NP_001094089.1
NM_001256438.1		Intron			NP_001243367.1
NM_138375.2		Intron			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		Intron			NP_001305763.1
NM_032933.5		Intron			NP_116322.3
XM_011526233.2		Intron			XP_011524535.1
XM_017026043.1		Intron			XP_016881532.1
XM_017026044.1		Intron			XP_016881533.1
XM_017026045.1		Intron			XP_016881534.1
XM_017026046.1		Intron			XP_016881535.1
XM_017026047.1		Intron			XP_016881536.1
XM_017026048.1		Intron			XP_016881537.1
XM_017026049.1		Intron			XP_016881538.1
XM_017026050.1		Intron			XP_016881539.1
XM_017026051.1		Intron			XP_016881540.1

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