Product Details

SNP ID
rs200047323
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:50518727 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCACGTCGTGTTGCTGGGCACC[A/G]TCTCCTTGAGCCACCAGCTCAGCCA
Phenotype
MIM: 615324
Polymorphism
A/G, 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 1302 Missense Mutation ACG,ATG T329M NP_001073926.1
XM_005259429.4 1302 Missense Mutation ACG,ATG T329M XP_005259486.1
XM_006723506.3 1302 Missense Mutation ACG,ATG T329M XP_006723569.1
XM_011527520.2 1302 Missense Mutation ACG,ATG T329M XP_011525822.1

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