Product Details

SNP ID

rs139803694

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:55954296 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATAACCAATATGCTCATAAACTC[A/G]AACTGTTGGAGAAAGAGAGCAAAGC

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	653	Missense Mutation	AAA,GAA	K129E	NP_079285.2
XM_005265788.3	653	UTR 5			XP_005265845.1
XM_006714055.2	653	Missense Mutation	AAA,GAA	K129E	XP_006714118.1
XM_011534412.2	653	Intron			XP_011532714.1

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