Product Details

SNP ID

rs148422968

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75267783 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGATGTTGCAGATAAAGGTGACA[A/T]AGCAGACCCAGCCCTGCAGGGAGCG

Phenotype

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

Polymorphism

A/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

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	571	Missense Mutation	TAT,TTT	Y145F	NP_001229427.1
NM_001242500.1	571	Missense Mutation	TAT,TTT	Y138F	NP_001229429.1
NM_001242501.1	571	Missense Mutation	TAT,TTT	Y104F	NP_001229430.1
NM_020679.3	571	Missense Mutation	TAT,TTT	Y138F	NP_065730.2
XM_005257530.1	571	Missense Mutation	TAT,TTT	Y145F	XP_005257587.1
XM_005257532.4	571	Missense Mutation	TAT,TTT	Y104F	XP_005257589.1
XM_005257533.1	571	Missense Mutation	TAT,TTT	Y104F	XP_005257590.1
XM_011525051.2	571	Missense Mutation	TAT,TTT	Y213F	XP_011523353.1
XM_011525052.2	571	Missense Mutation	TAT,TTT	Y206F	XP_011523354.1
XM_011525053.2	571	Missense Mutation	TAT,TTT	Y172F	XP_011523355.1
XM_011525054.2	571	Intron			XP_011523356.1
XM_011525055.2	571	Intron			XP_011523357.1
XM_011525057.2	571	Intron			XP_011523359.1
XM_017024888.1	571	Missense Mutation	TAT,TTT	Y213F	XP_016880377.1
XM_017024889.1	571	Missense Mutation	TAT,TTT	Y145F	XP_016880378.1
XM_017024890.1	571	Missense Mutation	TAT,TTT	Y145F	XP_016880379.1
XM_017024891.1	571	Missense Mutation	TAT,TTT	Y145F	XP_016880380.1
XM_017024892.1	571	Intron			XP_016880381.1
XM_017024893.1	571	Missense Mutation	TAT,TTT	Y104F	XP_016880382.1
XM_017024894.1	571	Missense Mutation	TAT,TTT	Y104F	XP_016880383.1
XM_017024895.1	571	Intron			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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