Product Details

SNP ID

rs140749530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:53497306 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAAACTATGAGCACCTCTGCACC[C/T]CCACCTGTAGGATCTCTCTCCCAAA

Phenotype

MIM: 114206

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CACNA1D PubMed Links

Gene Details

Gene

CACNA1D

Gene Name

calcium voltage-gated channel subunit alpha1 D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000720.3	348	Silent Mutation	CCC,CCT	P74P	NP_000711.1
NM_001128839.2	348	Silent Mutation	CCC,CCT	P74P	NP_001122311.1
NM_001128840.2	348	Silent Mutation	CCC,CCT	P74P	NP_001122312.1
XM_005265448.3	348	Silent Mutation	CCC,CCT	P74P	XP_005265505.1
XM_011534094.2	348	Silent Mutation	CCC,CCT	P111P	XP_011532396.1
XM_011534096.2	348	Silent Mutation	CCC,CCT	P111P	XP_011532398.1
XM_011534097.2	348	Intron			XP_011532399.1
XM_011534099.2	348	Intron			XP_011532401.1
XM_011534100.2	348	Silent Mutation	CCC,CCT	P111P	XP_011532402.1
XM_017007137.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862626.1
XM_017007138.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862627.1
XM_017007139.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862628.1
XM_017007140.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862629.1
XM_017007141.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862630.1
XM_017007142.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862631.1
XM_017007143.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862632.1
XM_017007144.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862633.1
XM_017007145.1	348	Silent Mutation	CCC,CCT	P111P	XP_016862634.1

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