Product Details

SNP ID

rs112122132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75266796 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCAGCTGGCGTTGTCTTCCAGC[C/T]GGCCGCCCGGAACTCAATGATCTCC

Phenotype

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

Polymorphism

C/T, 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	1443	Missense Mutation	AGC,GGC	S246G	NP_001229427.1
NM_001242500.1	1443	Missense Mutation	AGC,GGC	S239G	NP_001229429.1
NM_001242501.1	1443	Missense Mutation	AGC,GGC	S205G	NP_001229430.1
NM_020679.3	1443	Missense Mutation	AGC,GGC	S239G	NP_065730.2
XM_005257530.1	1443	Missense Mutation	AGC,GGC	S246G	XP_005257587.1
XM_005257532.4	1443	Missense Mutation	AGC,GGC	S205G	XP_005257589.1
XM_005257533.1	1443	Missense Mutation	AGC,GGC	S205G	XP_005257590.1
XM_011525051.2	1443	Missense Mutation	AGC,GGC	S314G	XP_011523353.1
XM_011525052.2	1443	Missense Mutation	AGC,GGC	S307G	XP_011523354.1
XM_011525053.2	1443	Missense Mutation	AGC,GGC	S273G	XP_011523355.1
XM_011525054.2	1443	Missense Mutation	AGC,GGC	S262G	XP_011523356.1
XM_011525055.2	1443	Missense Mutation	AGC,GGC	S221G	XP_011523357.1
XM_011525057.2	1443	Missense Mutation	AGC,GGC	S153G	XP_011523359.1
XM_017024888.1	1443	UTR 3			XP_016880377.1
XM_017024889.1	1443	UTR 3			XP_016880378.1
XM_017024890.1	1443	UTR 3			XP_016880379.1
XM_017024891.1	1443	UTR 3			XP_016880380.1
XM_017024892.1	1443	Intron			XP_016880381.1
XM_017024893.1	1443	Missense Mutation	AGC,GGC	S205G	XP_016880382.1
XM_017024894.1	1443	Missense Mutation	AGC,GGC	S205G	XP_016880383.1
XM_017024895.1	1443	Missense Mutation	AGC,GGC	S187G	XP_016880384.1

Gene

MRPS7

Gene Name

mitochondrial ribosomal protein S7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015971.3	1443	Intron			NP_057055.2

Gene

SLC25A19

Gene Name

solute carrier family 25 member 19

There are no transcripts associated with this gene.

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