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SNP ID: rs199831258
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:40807398 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTGTCCGCTGCCTTCTCCTCAATGC[C/T]TAGCAGCGCGTACAGGTCCATCTGT
Phenotype: MIM: 616844 MIM: 613256
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: DNAJC17 PubMed Links

Gene Details

Gene: DNAJC17
Gene Name: DnaJ heat shock protein family (Hsp40) member C17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018163.2	323	Missense Mutation	AGC,GGC	S17G	NP_060633.1
XM_017022401.1	323	UTR 5			XP_016877890.1
XM_017022402.1	323	Intron			XP_016877891.1

Gene: PPP1R14D
Gene Name: protein phosphatase 1 regulatory inhibitor subunit 14D

There are no transcripts associated with this gene.

Gene: ZFYVE19
Gene Name: zinc finger FYVE-type containing 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077268.1	323	UTR 5			NP_001070736.1
NM_001258420.1	323	UTR 5			NP_001245349.1
NM_001258421.1	323	UTR 5			NP_001245350.1
NM_032850.4	323	Missense Mutation	CCT,CTT	P37L	NP_116239.3
XM_017022683.1	323	Intron			XP_016878172.1
XM_017022684.1	323	UTR 5			XP_016878173.1

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