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SNP ID: rs139443241
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:53308073 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTACCAGGGAAGGAGCTCAAACACA[C/G]GGCTGTTTCGAGTGCGAAAAAGGAG
Phenotype: MIM: 605378 MIM: 611366 MIM: 604899
Polymorphism: C/G, Transversion 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	1405	Missense Mutation	CCT,CGT	P404R	NP_001166937.1
NM_015665.5	1405	Missense Mutation	CCT,CGT	P437R	NP_056480.1
XM_011538778.1	1405	Missense Mutation	CCT,CGT	P437R	XP_011537080.1
XM_011538780.1	1405	Missense Mutation	CCT,CGT	P404R	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	1405	Intron			NP_067653.3

Gene: PFDN5
Gene Name: prefoldin subunit 5

There are no transcripts associated with this gene.

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