Product Details

SNP ID

rs41274005

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:33026343 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAATTATCGCAGGAATTGTTAC[C/T]TTTTTGGTGAAATTTAGGGAAGGTG

Phenotype

MIM: 606350 MIM: 602837

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

APTX PubMed Links

Gene Details

Gene

APTX

Gene Name

aprataxin

There are no transcripts associated with this gene.

Gene

DNAJA1

Gene Name

DnaJ heat shock protein family (Hsp40) member A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001314039.1		Intron			NP_001300968.1
NM_001539.3		Intron			NP_001530.1

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