Product Details

SNP ID

rs142393409

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:138498085 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGAAATGCTGGGAAAAATTCCT[C/T]GTGTTCTTCCAATTTGTAGATAATG

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	2043	Missense Mutation	AAG,GAG	K542E	NP_001275893.1
NM_001288965.1	2043	Missense Mutation	AAG,GAG	K540E	NP_001275894.1
NM_001288966.1	2043	Intron			NP_001275895.1
NM_001288967.1	2043	Missense Mutation	AAG,GAG	K408E	NP_001275896.1
NM_001320598.1	2043	Missense Mutation	AAG,GAG	K560E	NP_001307527.1
NM_001320599.1	2043	Missense Mutation	AAG,GAG	K560E	NP_001307528.1
NM_001320600.1	2043	Intron			NP_001307529.1
NM_024491.3	2043	Missense Mutation	AAG,GAG	K560E	NP_077817.2
XM_005247805.3	2043	Missense Mutation	AAG,GAG	K560E	XP_005247862.1
XM_011513209.2	2043	Intron			XP_011511511.1
XM_017007270.1	2043	Missense Mutation	AAG,GAG	K560E	XP_016862759.1
XM_017007271.1	2043	Missense Mutation	AAG,GAG	K560E	XP_016862760.1
XM_017007272.1	2043	Missense Mutation	AAG,GAG	K560E	XP_016862761.1
XM_017007273.1	2043	Missense Mutation	AAG,GAG	K540E	XP_016862762.1
XM_017007274.1	2043	Missense Mutation	AAG,GAG	K540E	XP_016862763.1
XM_017007275.1	2043	Missense Mutation	AAG,GAG	K560E	XP_016862764.1
XM_017007276.1	2043	Missense Mutation	AAG,GAG	K442E	XP_016862765.1
XM_017007277.1	2043	Missense Mutation	AAG,GAG	K408E	XP_016862766.1
XM_017007278.1	2043	Missense Mutation	AAG,GAG	K384E	XP_016862767.1
XM_017007279.1	2043	Missense Mutation	AAG,GAG	K334E	XP_016862768.1
XM_017007280.1	2043	Missense Mutation	AAG,GAG	K301E	XP_016862769.1
XM_017007281.1	2043	Missense Mutation	AAG,GAG	K301E	XP_016862770.1
XM_017007282.1	2043	Missense Mutation	AAG,GAG	K301E	XP_016862771.1
XM_017007283.1	2043	Missense Mutation	AAG,GAG	K301E	XP_016862772.1
XM_017007284.1	2043	Missense Mutation	AAG,GAG	K301E	XP_016862773.1

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