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SNP ID

rs112987708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53307573 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGGGCAGAGGTTGGGGATGTCTC[A/G]GTAAAGAGGGGCAGGTCATGAATAG

Phenotype

MIM: 605378 MIM: 611366 MIM: 604899

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AAAS PubMed Links

Gene Details

Gene

AAAS

Gene Name

aladin WD repeat nucleoporin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173466.1	1694	Silent Mutation	ACC,ACT	T486T	NP_001166937.1
NM_015665.5	1694	Silent Mutation	ACC,ACT	T519T	NP_056480.1
XM_011538778.1	1694	Silent Mutation	ACC,ACT	T533T	XP_011537080.1
XM_011538780.1	1694	Silent Mutation	ACC,ACT	T500T	XP_011537082.1

Gene

C12orf10

Gene Name

chromosome 12 open reading frame 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021640.3	1694	Intron			NP_067653.3

Gene

PFDN5

Gene Name

prefoldin subunit 5

There are no transcripts associated with this gene.

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