Product Details

SNP ID

rs80173211

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:26282538 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTAGAGGGTGGGCGGGAATGTGC[C/T]GAAGATCTCAAAGGCAGAGGCATCC

Phenotype

MIM: 615679 MIM: 609151

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CEP85 PubMed Links

Gene Details

Gene

CEP85

Gene Name

centrosomal protein 85

There are no transcripts associated with this gene.

Gene

SH3BGRL3

Gene Name

SH3 domain binding glutamate rich protein like 3

There are no transcripts associated with this gene.

Gene

UBXN11

Gene Name

UBX domain protein 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077262.1	1112	Missense Mutation	AGC,GGC	S322G	NP_001070730.1
NM_145345.2	1112	Missense Mutation	AGC,GGC	S409G	NP_663320.2
NM_183008.2	1112	Missense Mutation	AGC,GGC	S442G	NP_892120.2

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