Product Details

SNP ID

rs200172929

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:123346699 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGCCATGGGGGCCATCCTTTTT[A/T]CCACTTGCAATCTCTGTGGAATCCT

Phenotype

MIM: 613446

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CEP120 PubMed Links

Gene Details

Gene

CEP120

Gene Name

centrosomal protein 120

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166226.1	3231	Silent Mutation	GGA,GGT	G901G	NP_001159698.1
NM_153223.3	3231	Silent Mutation	GGA,GGT	G927G	NP_694955.2
XM_005271901.4	3231	Silent Mutation	GGA,GGT	G882G	XP_005271958.1
XM_011543185.2	3231	Silent Mutation	GGA,GGT	G901G	XP_011541487.1
XM_011543186.2	3231	Silent Mutation	GGA,GGT	G438G	XP_011541488.1
XM_017009085.1	3231	Silent Mutation	GGA,GGT	G438G	XP_016864574.1

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