Product Details

SNP ID

rs1801436

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121839781 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCATGTTGGTGAGGTTACCCCGCA[A/G]GTTCTGCTCCTCCTCGAAAGCCTTG

Phenotype

MIM: 609695 MIM: 611055

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HPD PubMed Links

Gene Details

Gene

HPD

Gene Name

4-hydroxyphenylpyruvate dioxygenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171993.1	1169	Silent Mutation	CTG,TTG	L338L	NP_001165464.1
NM_002150.2	1169	Silent Mutation	CTG,TTG	L377L	NP_002141.1

Gene

SETD1B

Gene Name

SET domain containing 1B

There are no transcripts associated with this gene.

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