Product Details

SNP ID

rs199867478

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:55953114 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGTTCATACAACTGAGAGCCTTC[A/G]GCAATCAAAATTATCTGCTGTGAAA

Phenotype

MIM: 611423

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEP135 PubMed Links

Gene Details

Gene

CEP135

Gene Name

centrosomal protein 135

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025009.4	411	Missense Mutation	CAG,CGG	Q48R	NP_079285.2
XM_005265788.3	411	UTR 5			XP_005265845.1
XM_006714055.2	411	Missense Mutation	CAG,CGG	Q48R	XP_006714118.1
XM_011534412.2	411	Intron			XP_011532714.1

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