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SNP ID: rs138320574
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:90931942 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTCCACCGTGTCATGGAGCAGGGC[C/T]GCCTGGGGACAAGTTCCCACTCAGC
Phenotype: MIM: 600988 MIM: 611219
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: HDDC3 PubMed Links

Gene Details

Gene: HDDC3
Gene Name: HD domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286451.1	200	Silent Mutation	GCA,GCG	A57A	NP_001273380.1
NM_198527.3	200	Silent Mutation	GCA,GCG	A57A	NP_940929.1

Gene: MAN2A2
Gene Name: mannosidase alpha class 2A member 2

There are no transcripts associated with this gene.

Gene: UNC45A
Gene Name: unc-45 myosin chaperone A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039675.1	200	Intron			NP_001034764.1
NM_001323619.1	200	Intron			NP_001310548.1
NM_001323620.1	200	Intron			NP_001310549.1
NM_001323621.1	200	Intron			NP_001310550.1
NM_018671.4	200	Intron			NP_061141.2
XM_005254963.3	200	Intron			XP_005255020.1
XM_011521779.2	200	Intron			XP_011520081.1
XM_011521780.2	200	Intron			XP_011520082.1
XM_017022407.1	200	Intron			XP_016877896.1

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