Product Details

SNP ID

rs144553520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:10554166 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGTGATACAGGGGCTTCCTCTT[C/G]CTGTGCTGGGGGACTCTCCGGCCCC

Phenotype

MIM: 611340

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATG4D PubMed Links

Gene Details

Gene

ATG4D

Gene Name

autophagy related 4D cysteine peptidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281504.1	1924	Intron			NP_001268433.1
NM_032885.5	1924	Intron			NP_116274.3
XM_006722927.1	1924	Intron			XP_006722990.1

Gene

KRI1

Gene Name

KRI1 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023008.3	1924	Missense Mutation	CAA,GAA	Q639E	NP_075384.3
XM_011528190.2	1924	Missense Mutation	CAA,GAA	Q521E	XP_011526492.1

Gene

MIR1238

Gene Name

microRNA 1238

There are no transcripts associated with this gene.

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