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SNP ID: rs200672165
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:10554186 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCTTCCTGTGCTGGGGGACTCTCC[A/G]GCCCCATCAAGCTGCCATCAAGGGC
Phenotype: MIM: 611340
Polymorphism: A/G, Transition 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	1904	Intron			NP_001268433.1
NM_032885.5	1904	Intron			NP_116274.3
XM_006722927.1	1904	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	1904	Missense Mutation	CCG,CTG	P632L	NP_075384.3
XM_011528190.2	1904	Missense Mutation	CCG,CTG	P514L	XP_011526492.1

Gene: MIR1238
Gene Name: microRNA 1238

There are no transcripts associated with this gene.

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