Product Details

SNP ID
rs151254015
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50511746 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGCTTCTCAGCAGAGATGGATC[C/G]CCGGCCTGGAGGGGAGCTGGCAGCA
Phenotype
MIM: 614545 MIM: 615324
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ASPDH PubMed Links

Gene Details

Gene
ASPDH
Gene Name
aspartate dehydrogenase domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001024656.2 898 Missense Mutation GCG,GGG A174G NP_001019827.2
NM_001114598.1 898 Missense Mutation GCG,GGG A279G NP_001108070.1
Gene
EMC10
Gene Name
ER membrane protein complex subunit 10
There are no transcripts associated with this gene.

Gene
JOSD2
Gene Name
Josephin domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270639.1 898 Intron NP_001257568.1
NM_001270640.1 898 Intron NP_001257569.1
NM_001270641.1 898 Intron NP_001257570.1
NM_001270686.1 898 Intron NP_001257615.1
NM_138334.3 898 Intron NP_612207.1
XM_011526434.2 898 Intron XP_011524736.1
Gene
LRRC4B
Gene Name
leucine rich repeat containing 4B
There are no transcripts associated with this gene.

View Full Product Details