Product Details

SNP ID

rs1047438

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.5:123346654 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CTTCTATCAGGCGAGTCAAATAATC[A/G]TCCAAACCTTCTTCCAATACACTGC

Phenotype

MIM: 613446

Polymorphism

A/G, 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	3276	Silent Mutation			NP_001159698.1
NM_153223.3	3276	Silent Mutation			NP_694955.2
XM_005271901.4	3276	Silent Mutation			XP_005271958.1
XM_011543185.2	3276	Silent Mutation			XP_011541487.1
XM_011543186.2	3276	Silent Mutation			XP_011541488.1
XM_017009085.1	3276	Missense Mutation			XP_016864574.1

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