Product Details

SNP ID
rs76592488
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:46362634 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAGAGATCATTGCATGGATCTCT[C/T]GGGATAACAAAGTCAGCACGAATGC
Phenotype
MIM: 604523 MIM: 610230
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CELSR1 PubMed Links

Gene Details

Gene
CELSR1
Gene Name
cadherin EGF LAG seven-pass G-type receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014246.1 6273 UTR 3 NP_055061.1
XM_006724383.3 6273 UTR 3 XP_006724446.1
XM_011530553.1 6273 Intron XP_011528855.1
XM_011530554.2 6273 UTR 3 XP_011528856.1
XM_011530555.2 6273 UTR 3 XP_011528857.1
Gene
TRMU
Gene Name
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
There are no transcripts associated with this gene.

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