Product Details

SNP ID

rs17140248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241638535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTTTTAGCTCATTCATTCTTTGT[A/G]GGAACTGATTTGCCTTTTACCAAGT

Phenotype

MIM: 611338 MIM: 612533

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATG4B PubMed Links

Gene Details

Gene

ATG4B

Gene Name

autophagy related 4B cysteine peptidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013325.4		Intron			NP_037457.3
NM_178326.2		Intron			NP_847896.1
XM_005246992.3		Intron			XP_005247049.2
XM_005246993.2		Intron			XP_005247050.2
XM_005246995.3		Intron			XP_005247052.1
XM_005246996.2		Intron			XP_005247053.1
XM_017003637.1		Intron			XP_016859126.1
XM_017003638.1		Intron			XP_016859127.1
XM_017003639.1		Intron			XP_016859128.1
XM_017003640.1		Intron			XP_016859129.1

Gene

THAP4

Gene Name

THAP domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164356.1		Intron			NP_001157828.1
NM_015963.5		Intron			NP_057047.4
XM_005247016.4		Intron			XP_005247073.3
XM_011511291.2		Intron			XP_011509593.1
XM_017004256.1		Intron			XP_016859745.1

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