Product Details

SNP ID
rs150746800
Assay Type
Functionally Tested
NCBI dbSNP Submissions
5
Location
Chr.1:147187154 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGGGTCAGTGAAGGCCAGAGACA[A/G]CAGATTGGGCCTGACCCCCACCAAA
Phenotype
MIM: 613039 MIM: 603957
Polymorphism
A/G, Transition 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 1438 Intron NP_001243265.1
NM_001256337.1 1438 Intron NP_001243266.1
NM_001256338.1 1438 Intron NP_001243267.1
NM_004284.4 1438 Intron NP_004275.4
NM_024568.2 1438 Intron NP_078844.2
XM_006711639.3 1438 Intron XP_006711702.1
XM_017002858.1 1438 Intron XP_016858347.1
XM_017002859.1 1438 Intron XP_016858348.1
XM_017002860.1 1438 Intron XP_016858349.1
XM_017002861.1 1438 Intron XP_016858350.1
XM_017002862.1 1438 Intron XP_016858351.1
XM_017002863.1 1438 Intron XP_016858352.1
XM_017002864.1 1438 Intron XP_016858353.1
Gene
FMO5
Gene Name
flavin containing monooxygenase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144829.2 1438 Intron NP_001138301.1
NM_001144830.2 1438 UTR 3 NP_001138302.1
NM_001461.3 1438 Silent Mutation CTG,TTG L450L NP_001452.2
XM_005272946.4 1438 Silent Mutation CTG,TTG L450L XP_005273003.1
XM_005272947.4 1438 Silent Mutation CTG,TTG L450L XP_005273004.1
XM_005272948.4 1438 Silent Mutation CTG,TTG L450L XP_005273005.1
XM_006711244.3 1438 Intron XP_006711307.1
XM_006711245.3 1438 UTR 3 XP_006711308.1
XM_011509350.2 1438 Silent Mutation CTG,TTG L450L XP_011507652.1
XM_011509351.2 1438 Silent Mutation CTG,TTG L387L XP_011507653.1
XM_017000801.1 1438 Silent Mutation CTG,TTG L387L XP_016856290.1
XM_017000802.1 1438 Silent Mutation CTG,TTG L387L XP_016856291.1
Gene
PDIA3P1
Gene Name
protein disulfide isomerase family A member 3 pseudogene 1
There are no transcripts associated with this gene.

View Full Product Details