Product Details

SNP ID
rs143449485
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:53817883 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGCCTTCTCTGCGATCATGATT[A/G]TGGGGGCGTTCAGGTTGCCGCTGAC
Phenotype
MIM: 114206
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CACNA1D PubMed Links

Gene Details

Gene
CACNA1D
Gene Name
calcium voltage-gated channel subunit alpha1 D
There are no transcripts associated with this gene.

Gene
CHDH
Gene Name
choline dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018397.4 1902 Missense Mutation ACA,ATA T560I NP_060867.2
XM_006713250.3 1902 Missense Mutation ACA,ATA T561I XP_006713313.1
XM_006713251.3 1902 Missense Mutation ACA,ATA T561I XP_006713314.1
XM_006713252.3 1902 UTR 3 XP_006713315.1
XM_011533938.2 1902 Missense Mutation ACA,ATA T561I XP_011532240.1
XM_011533939.2 1902 Missense Mutation ACA,ATA T561I XP_011532241.1
XM_017006797.1 1902 Missense Mutation ACA,ATA T560I XP_016862286.1
XM_017006798.1 1902 Missense Mutation ACA,ATA T560I XP_016862287.1
XM_017006799.1 1902 UTR 3 XP_016862288.1

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