Product Details

SNP ID

rs199645186

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:29906953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGGACATGGATCCTGCGGACACG[A/G]TGCTCTCGGTTCTCTTCATCCTCCC

Phenotype

MIM: 608947 MIM: 616667

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	1196	Intron			NP_859069.2
XM_017023107.1	1196	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	1196	Silent Mutation	CAC,CAT	H303H	NP_849194.1
XM_011545783.2	1196	Silent Mutation	CAC,CAT	H321H	XP_011544085.1
XM_011545784.2	1196	Silent Mutation	CAC,CAT	H176H	XP_011544086.1
XM_017023104.1	1196	Silent Mutation	CAC,CAT	H152H	XP_016878593.1
XM_017023105.1	1196	Intron			XP_016878594.1
XM_017023106.1	1196	Intron			XP_016878595.1

Gene

SEZ6L2

Gene Name

seizure related 6 homolog like 2

There are no transcripts associated with this gene.

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