Product Details

SNP ID

rs12376749

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:33025599 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGCCCGAGACCTTTCCTAGACCTC[C/T]CTCCTTCCCCAGCCTGGGATCTCCA

Phenotype

MIM: 606350 MIM: 602837

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

APTX PubMed Links

Gene Details

Gene

APTX

Gene Name

aprataxin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195248.1		Intron			NP_001182177.1
NM_001195249.1		Intron			NP_001182178.1
NM_001195250.1		Intron			NP_001182179.1
NM_001195251.1		Intron			NP_001182180.1
NM_001195252.1		Intron			NP_001182181.1
NM_001195254.1		Intron			NP_001182183.1
NM_175069.2		Intron			NP_778239.1
NM_175073.2		Intron			NP_778243.1
XM_006716791.3		Intron			XP_006716854.1
XM_006716792.2		Intron			XP_006716855.1
XM_011517938.1		Intron			XP_011516240.1
XM_011517939.2		Intron			XP_011516241.1
XM_017014831.1		Intron			XP_016870320.1
XM_017014832.1		Intron			XP_016870321.1
XM_017014833.1		Intron			XP_016870322.1
XM_017014834.1		Intron			XP_016870323.1
XM_017014835.1		Intron			XP_016870324.1
XM_017014836.1		Intron			XP_016870325.1
XM_017014837.1		Intron			XP_016870326.1
XM_017014838.1		Intron			XP_016870327.1

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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