Product Details

SNP ID

rs148445065

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53295888 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGCTCAGCTCAAAGTGGTACAGA[C/T]CAAGTATGTGGAAGCCAAGGACTGT

Phenotype

MIM: 611366 MIM: 604143 MIM: 604899

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C12orf10 PubMed Links

Gene Details

Gene

C12orf10

Gene Name

chromosome 12 open reading frame 10

There are no transcripts associated with this gene.

Gene

ESPL1

Gene Name

extra spindle pole bodies like 1, separase

There are no transcripts associated with this gene.

Gene

PFDN5

Gene Name

prefoldin subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002624.3	239	Missense Mutation	ACC,ATC	T41I	NP_002615.2
NM_145897.2	239	Intron			NP_665904.1

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