Product Details

SNP ID

rs17320262

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:108161245 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGGTATATGGACAGCCACGCCTTA[A/T]CTCAAGTGTTGTTATCCCTTGAACA

Phenotype

MIM: 300663 MIM: 303631

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ATG4A PubMed Links

Gene Details

Gene

ATG4A

Gene Name

autophagy related 4A cysteine peptidase

There are no transcripts associated with this gene.

Gene

COL4A6

Gene Name

collagen type IV alpha 6 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287758.1		Intron			NP_001274687.1
NM_001287759.1		Intron			NP_001274688.1
NM_001287760.1		Intron			NP_001274689.1
NM_001847.3		Intron			NP_001838.2
NM_033641.3		Intron			NP_378667.1
XM_006724617.3		Intron			XP_006724680.1
XM_011530852.2		Intron			XP_011529154.1
XM_011530853.2		Intron			XP_011529155.1
XM_011530854.2		Intron			XP_011529156.1

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