Product Details

SNP ID

rs113394841

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:210680595 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAGTGGCATCCTGGCATGGGAAG[A/G]CAGTCAGCACAAAGCAGCCTGCGGT

Phenotype

MIM: 605743 MIM: 603305

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HHAT PubMed Links

Gene Details

Gene

HHAT

Gene Name

hedgehog acyltransferase

There are no transcripts associated with this gene.

Gene

KCNH1

Gene Name

potassium voltage-gated channel subfamily H member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002238.3	5826	UTR 3			NP_002229.1
NM_172362.2	5826	UTR 3			NP_758872.1
XM_017001246.1	5826	UTR 3			XP_016856735.1

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