Product Details

SNP ID
rs200630321
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:29911039 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGCAGCACACCTCGGCGATTTTG[C/T]GGCCCTGCCCGTAGAAAGACCAGCA
Phenotype
MIM: 608947
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASPHD1 PubMed Links

Gene Details

Gene
ASPHD1
Gene Name
aspartate beta-hydroxylase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181718.3 979 Intron NP_859069.2
XM_017023107.1 979 Intron XP_016878596.1
Gene
KCTD13
Gene Name
potassium channel tetramerization domain containing 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178863.4 979 Missense Mutation CAC,CGC H231R NP_849194.1
XM_011545783.2 979 Missense Mutation CAC,CGC H249R XP_011544085.1
XM_011545784.2 979 Missense Mutation CAC,CGC H104R XP_011544086.1
XM_017023104.1 979 Missense Mutation CAC,CGC H80R XP_016878593.1
XM_017023105.1 979 Intron XP_016878594.1
XM_017023106.1 979 Intron XP_016878595.1

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