Product Details

SNP ID
rs117711212
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50506164 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACTGCGCTGTGGGCGCCGATGGT[C/T]AGCCATGGTCAGTCTGTCCGCAGCC
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_175063.5 675 Intron NP_778233.4
NM_206538.3 675 Intron NP_996261.1
XM_006723163.3 675 Intron XP_006723226.1
XM_011526818.2 675 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_001270639.1 675 UTR 3 NP_001257568.1
NM_001270640.1 675 UTR 3 NP_001257569.1
NM_001270641.1 675 UTR 3 NP_001257570.1
NM_001270686.1 675 UTR 3 NP_001257615.1
NM_138334.3 675 UTR 3 NP_612207.1
XM_011526434.2 675 UTR 3 XP_011524736.1

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