Product Details

SNP ID

rs201375481

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75261913 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGCCAGCCAAGATGGCTGCCCCC[G/T]CAGTGAAGGTTGCCCGAGGATGGTC

Phenotype

MIM: 606006 MIM: 612072 MIM: 611974

Polymorphism

G/T, Transversion 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	246	Intron			NP_001166174.1
NM_001172704.2	246	Intron			NP_001166175.1
NM_001291641.1	246	Intron			NP_001278570.1
NM_001291642.1	246	Intron			NP_001278571.1
NM_014001.4	246	Intron			NP_054720.1
NM_138619.3	246	Intron			NP_619525.1
XM_011524563.2	246	Intron			XP_011522865.1
XM_017024385.1	246	Intron			XP_016879874.1
XM_017024386.1	246	Intron			XP_016879875.1
XM_017024387.1	246	Intron			XP_016879876.1
XM_017024388.1	246	Intron			XP_016879877.1
XM_017024389.1	246	Intron			XP_016879878.1
XM_017024390.1	246	Intron			XP_016879879.1
XM_017024391.1	246	Intron			XP_016879880.1
XM_017024392.1	246	Intron			XP_016879881.1

Gene

LOC100287042

Gene Name

uncharacterized LOC100287042

There are no transcripts associated with this gene.

Gene

MIF4GD

Gene Name

MIF4G domain containing

There are no transcripts associated with this gene.

Gene

MRPS7

Gene Name

mitochondrial ribosomal protein S7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015971.3	246	Missense Mutation	GCA,TCA	A5S	NP_057055.2

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