Product Details

SNP ID

rs144512235

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75267576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAAACTGTCTGGCTGGGCCAGCC[A/G]GAAGAGGCAGTCATAGACAGGGTTC

Phenotype

MIM: 606006 MIM: 612072 MIM: 611974 MIM: 606521

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

There are no transcripts associated with this gene.

Gene

LOC100287042

Gene Name

uncharacterized LOC100287042

There are no transcripts associated with this gene.

Gene

MIF4GD

Gene Name

MIF4G domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242498.1	663	Missense Mutation	CGG,TGG	R176W	NP_001229427.1
NM_001242500.1	663	Missense Mutation	CGG,TGG	R169W	NP_001229429.1
NM_001242501.1	663	Missense Mutation	CGG,TGG	R135W	NP_001229430.1
NM_020679.3	663	Missense Mutation	CGG,TGG	R169W	NP_065730.2
XM_005257530.1	663	Missense Mutation	CGG,TGG	R176W	XP_005257587.1
XM_005257532.4	663	Missense Mutation	CGG,TGG	R135W	XP_005257589.1
XM_005257533.1	663	Missense Mutation	CGG,TGG	R135W	XP_005257590.1
XM_011525051.2	663	Missense Mutation	CGG,TGG	R244W	XP_011523353.1
XM_011525052.2	663	Missense Mutation	CGG,TGG	R237W	XP_011523354.1
XM_011525053.2	663	Missense Mutation	CGG,TGG	R203W	XP_011523355.1
XM_011525054.2	663	Missense Mutation	CGG,TGG	R192W	XP_011523356.1
XM_011525055.2	663	Missense Mutation	CGG,TGG	R151W	XP_011523357.1
XM_011525057.2	663	Missense Mutation	CGG,TGG	R83W	XP_011523359.1
XM_017024888.1	663	Missense Mutation	CGG,TGG	R244W	XP_016880377.1
XM_017024889.1	663	Missense Mutation	CGG,TGG	R176W	XP_016880378.1
XM_017024890.1	663	Missense Mutation	CGG,TGG	R176W	XP_016880379.1
XM_017024891.1	663	Missense Mutation	CGG,TGG	R176W	XP_016880380.1
XM_017024892.1	663	Missense Mutation	CGG,TGG	R151W	XP_016880381.1
XM_017024893.1	663	Missense Mutation	CGG,TGG	R135W	XP_016880382.1
XM_017024894.1	663	Missense Mutation	CGG,TGG	R135W	XP_016880383.1
XM_017024895.1	663	Missense Mutation	CGG,TGG	R117W	XP_016880384.1

Gene

MRPS7

Gene Name

mitochondrial ribosomal protein S7

There are no transcripts associated with this gene.

Gene

SLC25A19

Gene Name

solute carrier family 25 member 19

There are no transcripts associated with this gene.

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