Product Details

SNP ID

rs115548009

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:46303982 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGACCGAGGTGCTGTACCAGCT[A/G]GCTCACACGCTGCCCTTCGCCCGCG

Phenotype

MIM: 609976

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HIF3A PubMed Links

Gene Details

Gene

HIF3A

Gene Name

hypoxia inducible factor 3 alpha subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022462.4	270	Nonsense Mutation	TAG,TGG	*17W	NP_071907.4
NM_152794.3	270	Silent Mutation	CTA,CTG	L35L	NP_690007.1
NM_152795.3	270	Silent Mutation	CTA,CTG	L37L	NP_690008.2
NM_152796.2	270	Nonsense Mutation	TAG,TGG	*17W	NP_690009.1
XM_005259152.4	270	Silent Mutation	CTA,CTG	L81L	XP_005259209.1
XM_005259153.3	270	Nonsense Mutation	TAG,TGG	*17W	XP_005259210.2
XM_005259155.4	270	Silent Mutation	CTA,CTG	L81L	XP_005259212.1
XM_005259156.4	270	Silent Mutation	CTA,CTG	L81L	XP_005259213.1
XM_017027132.1	270	Silent Mutation	CTA,CTG	L81L	XP_016882621.1
XM_017027133.1	270	Silent Mutation	CTA,CTG	L81L	XP_016882622.1
XM_017027134.1	270	Silent Mutation	CTA,CTG	L37L	XP_016882623.1
XM_017027135.1	270	Silent Mutation	CTA,CTG	L35L	XP_016882624.1
XM_017027136.1	270	Silent Mutation	CTA,CTG	L81L	XP_016882625.1
XM_017027137.1	270	Silent Mutation	CTA,CTG	L35L	XP_016882626.1
XM_017027138.1	270	Silent Mutation	CTA,CTG	L37L	XP_016882627.1
XM_017027139.1	270	Nonsense Mutation	TAG,TGG	*17W	XP_016882628.1
XM_017027140.1	270	Nonsense Mutation	TAG,TGG	*17W	XP_016882629.1
XM_017027141.1	270	Nonsense Mutation	TAG,TGG	*17W	XP_016882630.1
XM_017027142.1	270	Nonsense Mutation	TAG,TGG	*17W	XP_016882631.1

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