Product Details

SNP ID

rs2303721

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:123346674 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAATCATCCAAACCTTCTTCCAATA[C/T]ACTGCCATGGGGGCCATCCTTTTTT

Phenotype

MIM: 613446

Polymorphism

C/T, Transition 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	3256	Missense Mutation	ATA,GTA	I910V	NP_001159698.1
NM_153223.3	3256	Missense Mutation	ATA,GTA	I936V	NP_694955.2
XM_005271901.4	3256	Missense Mutation	ATA,GTA	I891V	XP_005271958.1
XM_011543185.2	3256	Missense Mutation	ATA,GTA	I910V	XP_011541487.1
XM_011543186.2	3256	Missense Mutation	ATA,GTA	I447V	XP_011541488.1
XM_017009085.1	3256	Missense Mutation	ATA,GTA	I447V	XP_016864574.1

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