Product Details

SNP ID

rs143894366

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29911050 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCGGCGATTTTGCGGCCCTGCCC[A/G]TAGAAAGACCAGCAGCAGATCTCGT

Phenotype

MIM: 608947

Polymorphism

A/G, 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	968	Intron			NP_859069.2
XM_017023107.1	968	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	968	Silent Mutation	TAC,TAT	Y227Y	NP_849194.1
XM_011545783.2	968	Silent Mutation	TAC,TAT	Y245Y	XP_011544085.1
XM_011545784.2	968	Silent Mutation	TAC,TAT	Y100Y	XP_011544086.1
XM_017023104.1	968	Silent Mutation	TAC,TAT	Y76Y	XP_016878593.1
XM_017023105.1	968	Intron			XP_016878594.1
XM_017023106.1	968	Intron			XP_016878595.1

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