Product Details

SNP ID

rs186632688

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75273636 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTCCATGAGGCCCTTGTATCTCC[A/G]TACCTGGGGAGAGGAAAGGGATGAA

Phenotype

MIM: 612072 MIM: 611974 MIM: 606521

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC100287042 PubMed Links

Gene Details

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

There are no transcripts associated with this gene.

Gene

SLC25A19

Gene Name

solute carrier family 25 member 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001126121.1	1195	Missense Mutation	CGG,TGG	R260W	NP_001119593.1
NM_001126122.1	1195	Missense Mutation	CGG,TGG	R260W	NP_001119594.1
NM_021734.4	1195	Missense Mutation	CGG,TGG	R260W	NP_068380.3
XM_005257559.3	1195	Missense Mutation	CGG,TGG	R260W	XP_005257616.1
XM_005257560.2	1195	Missense Mutation	CGG,TGG	R260W	XP_005257617.1
XM_005257561.3	1195	Missense Mutation	CGG,TGG	R260W	XP_005257618.1
XM_005257562.2	1195	Missense Mutation	CGG,TGG	R260W	XP_005257619.1
XM_006722007.2	1195	Missense Mutation	CGG,TGG	R260W	XP_006722070.1
XM_011525098.1	1195	Missense Mutation	CGG,TGG	R155W	XP_011523400.1
XM_017024926.1	1195	Missense Mutation	CGG,TGG	R260W	XP_016880415.1
XM_017024927.1	1195	Missense Mutation	CGG,TGG	R159W	XP_016880416.1
XM_017024928.1	1195	Missense Mutation	CGG,TGG	R155W	XP_016880417.1

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