Product Details

SNP ID
rs201394663
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50519094 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGGTTGAGGTAGCGCAGGTTGA[C/T]CAGCCCCTCGAAGGCCGCCTCCGAG
Phenotype
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
JOSD2
Gene Name
Josephin domain containing 2
There are no transcripts associated with this gene.

Gene
LRRC4B
Gene Name
leucine rich repeat containing 4B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080457.1 935 Missense Mutation ATC,GTC I207V NP_001073926.1
XM_005259429.4 935 Missense Mutation ATC,GTC I207V XP_005259486.1
XM_006723506.3 935 Missense Mutation ATC,GTC I207V XP_006723569.1
XM_011527520.2 935 Missense Mutation ATC,GTC I207V XP_011525822.1

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