Product Details

SNP ID

rs148916260

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:89421167 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATTTTTTATTCAGCTTTTCTGTT[A/G]GACAGCACTGAAAAGCTTTTGCTGA

Phenotype

MIM: 614784

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC105369889 PubMed Links

Gene Details

Gene

LOC105369889

Gene Name

uncharacterized LOC105369889

There are no transcripts associated with this gene.

Gene

POC1B

Gene Name

POC1 centriolar protein B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199777.1	1790	Nonsense Mutation	CAA,TAA	Q433*	NP_001186706.1
NM_172240.2	1790	Nonsense Mutation	CAA,TAA	Q475*	NP_758440.1

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