Product Details

SNP ID

rs144294583

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:138500224 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCACACACAATGAGGATGAACTA[C/T]CTGCAAAAGAGAAATAAAAGGATAT

Phenotype

MIM: 614310

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CEP70 PubMed Links

Gene Details

Gene

CEP70

Gene Name

centrosomal protein 70

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288964.1	1903	Missense Mutation	GAT,GGT	D495G	NP_001275893.1
NM_001288965.1	1903	Missense Mutation	GAT,GGT	D493G	NP_001275894.1
NM_001288966.1	1903	Missense Mutation	GAT,GGT	D513G	NP_001275895.1
NM_001288967.1	1903	Missense Mutation	GAT,GGT	D361G	NP_001275896.1
NM_001320598.1	1903	Missense Mutation	GAT,GGT	D513G	NP_001307527.1
NM_001320599.1	1903	Missense Mutation	GAT,GGT	D513G	NP_001307528.1
NM_001320600.1	1903	Intron			NP_001307529.1
NM_024491.3	1903	Missense Mutation	GAT,GGT	D513G	NP_077817.2
XM_005247805.3	1903	Missense Mutation	GAT,GGT	D513G	XP_005247862.1
XM_011513209.2	1903	Intron			XP_011511511.1
XM_017007270.1	1903	Missense Mutation	GAT,GGT	D513G	XP_016862759.1
XM_017007271.1	1903	Missense Mutation	GAT,GGT	D513G	XP_016862760.1
XM_017007272.1	1903	Missense Mutation	GAT,GGT	D513G	XP_016862761.1
XM_017007273.1	1903	Missense Mutation	GAT,GGT	D493G	XP_016862762.1
XM_017007274.1	1903	Missense Mutation	GAT,GGT	D493G	XP_016862763.1
XM_017007275.1	1903	Missense Mutation	GAT,GGT	D513G	XP_016862764.1
XM_017007276.1	1903	Missense Mutation	GAT,GGT	D395G	XP_016862765.1
XM_017007277.1	1903	Missense Mutation	GAT,GGT	D361G	XP_016862766.1
XM_017007278.1	1903	Missense Mutation	GAT,GGT	D337G	XP_016862767.1
XM_017007279.1	1903	Missense Mutation	GAT,GGT	D287G	XP_016862768.1
XM_017007280.1	1903	Missense Mutation	GAT,GGT	D254G	XP_016862769.1
XM_017007281.1	1903	Missense Mutation	GAT,GGT	D254G	XP_016862770.1
XM_017007282.1	1903	Missense Mutation	GAT,GGT	D254G	XP_016862771.1
XM_017007283.1	1903	Missense Mutation	GAT,GGT	D254G	XP_016862772.1
XM_017007284.1	1903	Missense Mutation	GAT,GGT	D254G	XP_016862773.1

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