Product Details

SNP ID

rs3747248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:46361165 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGTGTTTGTGGAGAAAAACCAGCA[C/T]CGCAGAAGTACAAATTCAAAAATCT

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	11058	UTR 3			NP_055061.1
XM_006724383.3	11058	Intron			XP_006724446.1
XM_011530553.1	11058	Intron			XP_011528855.1
XM_011530554.2	11058	Intron			XP_011528856.1
XM_011530555.2	11058	Intron			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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