Product Details

SNP ID: rs4486943
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:75231666 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGGAAGGACCCCATGGGTGTGGGCT[A/G]TGCGGGTGCTCTTCAGCATGCGGGT
Phenotype: MIM: 606006 MIM: 170285
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: GGA3 PubMed Links

Gene Details

Gene: GGA3
Gene Name: golgi associated, gamma adaptin ear containing, ARF binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001172703.2		Intron			NP_001166174.1
NM_001172704.2		Intron			NP_001166175.1
NM_001291641.1		Intron			NP_001278570.1
NM_001291642.1		Intron			NP_001278571.1
NM_014001.4		Intron			NP_054720.1
NM_138619.3		Intron			NP_619525.1
XM_011524563.2		Intron			XP_011522865.1
XM_017024385.1		Intron			XP_016879874.1
XM_017024386.1		Intron			XP_016879875.1
XM_017024387.1		Intron			XP_016879876.1
XM_017024388.1		Intron			XP_016879877.1
XM_017024389.1		Intron			XP_016879878.1
XM_017024390.1		Intron			XP_016879879.1
XM_017024391.1		Intron			XP_016879880.1
XM_017024392.1		Intron			XP_016879881.1

Gene: NUP85
Gene Name: nucleoporin 85

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303276.1		Intron			NP_001290205.1
NM_024844.4		Intron			NP_079120.1
XM_005257690.2		Intron			XP_005257747.1
XM_005257692.3		Intron			XP_005257749.1
XM_006722094.1		Intron			XP_006722157.1
XM_011525267.1		Intron			XP_011523569.1
XM_011525268.1		Intron			XP_011523570.1
XM_017025108.1		Intron			XP_016880597.1
XM_017025109.1		Intron			XP_016880598.1
XM_017025110.1		Intron			XP_016880599.1

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