Product Details

SNP ID

rs146649111

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53298123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGATGGAGAAAATCCAACCAGCT[C/T]TTCAGGAGAAGCACGCCATGAAACA

Phenotype

MIM: 605378 MIM: 611366 MIM: 604143 MIM: 604899

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AAAS PubMed Links

Gene Details

Gene

AAAS

Gene Name

aladin WD repeat nucleoporin

There are no transcripts associated with this gene.

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	343	Missense Mutation	CTT,TTT	L121F	NP_002615.2
NM_145897.2	343	Missense Mutation	CTT,TTT	L76F	NP_665904.1

View Full Product Details