Product Details

SNP ID

rs200587819

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29901366 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGCCGGCGGGCCAAGCCCAGGGG[G/T]TCCTGGGGATCCCGGGGAAGGACCT

Phenotype

MIM: 608947 MIM: 616667

Polymorphism

G/T, Transversion 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	541	Missense Mutation	GGT,GTT	G132V	NP_859069.2
XM_017023107.1	541	Intron			XP_016878596.1

Gene

KCTD13

Gene Name

potassium channel tetramerization domain containing 13

There are no transcripts associated with this gene.

Gene

SEZ6L2

Gene Name

seizure related 6 homolog like 2

There are no transcripts associated with this gene.

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