Product Details

SNP ID
rs191634238
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:147178758 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTTCACATCTCACTAACAAGTT[G/T]GAGGACAAGACTGTGGCATATACAG
Phenotype
MIM: 613039 MIM: 603957 MIM: 602741
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CHD1L PubMed Links

Gene Details

Gene
CHD1L
Gene Name
chromodomain helicase DNA binding protein 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256336.1 Intron NP_001243265.1
NM_001256337.1 Intron NP_001243266.1
NM_001256338.1 Intron NP_001243267.1
NM_004284.4 Intron NP_004275.4
NM_024568.2 Intron NP_078844.2
XM_006711639.3 Intron XP_006711702.1
XM_017002858.1 Intron XP_016858347.1
XM_017002859.1 Intron XP_016858348.1
XM_017002860.1 Intron XP_016858349.1
XM_017002861.1 Intron XP_016858350.1
XM_017002862.1 Intron XP_016858351.1
XM_017002863.1 Intron XP_016858352.1
XM_017002864.1 Intron XP_016858353.1
Gene
FMO5
Gene Name
flavin containing monooxygenase 5
There are no transcripts associated with this gene.

Gene
PDIA3P1
Gene Name
protein disulfide isomerase family A member 3 pseudogene 1
There are no transcripts associated with this gene.

Gene
PRKAB2
Gene Name
protein kinase AMP-activated non-catalytic subunit beta 2
There are no transcripts associated with this gene.

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