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SNP ID: rs11548260
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:50506485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGGCCACCCAGTGCCGCCGGCGCAG[C/T]GGCAGTGACAGCAGCCCCAGCGACA
Phenotype: MIM: 614545 MIM: 615324
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ASPDH PubMed Links

Gene Details

Gene: ASPDH
Gene Name: aspartate dehydrogenase domain containing

There are no transcripts associated with this gene.

Gene: EMC10
Gene Name: ER membrane protein complex subunit 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175063.5	459	Intron			NP_778233.4
NM_206538.3	459	Intron			NP_996261.1
XM_006723163.3	459	Intron			XP_006723226.1
XM_011526818.2	459	Intron			XP_011525120.1

Gene: JOSD2
Gene Name: Josephin domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270639.1	459	Silent Mutation	CCA,CCG	P120P	NP_001257568.1
NM_001270640.1	459	Silent Mutation	CCA,CCG	P120P	NP_001257569.1
NM_001270641.1	459	Silent Mutation	CCA,CCG	P78P	NP_001257570.1
NM_001270686.1	459	Silent Mutation	CCA,CCG	P120P	NP_001257615.1
NM_138334.3	459	Silent Mutation	CCA,CCG	P120P	NP_612207.1
XM_011526434.2	459	Silent Mutation	CCA,CCG	P120P	XP_011524736.1

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