Product Details

SNP ID

rs201587696

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23467609 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAAGTTAGGCTGCGCCCAAGACA[C/G]CCAGGTCTGGGAAGTCTTTCACTTC

Phenotype

MIM: 606005

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GGA2 PubMed Links

Gene Details

Gene

GGA2

Gene Name

golgi associated, gamma adaptin ear containing, ARF binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015044.4	1909	Missense Mutation	GCT,GGT	A608G	NP_055859.1
XM_017023074.1	1909	Missense Mutation	GCT,GGT	A571G	XP_016878563.1
XM_017023075.1	1909	Missense Mutation	GCT,GGT	A521G	XP_016878564.1

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