Product Details

SNP ID

rs183428097

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:42786077 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCTTGGGCTGCCACACGCATGTG[G/T]ATCAGATGAATGGACATTTTAGTAT

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HIGD1A PubMed Links

Gene Details

Gene

HIGD1A

Gene Name

HIG1 hypoxia inducible domain family member 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099668.1	305	Silent Mutation	ATA,ATC	I75I	NP_001093138.1
NM_001099669.1	305	Silent Mutation	ATA,ATC	I61I	NP_001093139.1
NM_014056.3	305	Silent Mutation	ATA,ATC	I61I	NP_054775.2

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