Product Details

SNP ID

rs141164128

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75277363 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTGAACGGCTCACCTGGCCAAAG[A/G]CAGCTCTGGCATGCTCAAACCCTCC

Phenotype

MIM: 612072 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

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	972	Missense Mutation	GCC,GTC	A255V	NP_001119593.1
NM_001126122.1	972	Missense Mutation	GCC,GTC	A255V	NP_001119594.1
NM_021734.4	972	Missense Mutation	GCC,GTC	A255V	NP_068380.3
XM_005257559.3	972	Missense Mutation	GCC,GTC	A255V	XP_005257616.1
XM_005257560.2	972	Missense Mutation	GCC,GTC	A255V	XP_005257617.1
XM_005257561.3	972	Missense Mutation	GCC,GTC	A255V	XP_005257618.1
XM_005257562.2	972	Missense Mutation	GCC,GTC	A255V	XP_005257619.1
XM_006722007.2	972	Missense Mutation	GCC,GTC	A255V	XP_006722070.1
XM_011525098.1	972	Intron			XP_011523400.1
XM_017024926.1	972	Missense Mutation	GCC,GTC	A255V	XP_016880415.1
XM_017024927.1	972	Missense Mutation	GCC,GTC	A154V	XP_016880416.1
XM_017024928.1	972	Intron			XP_016880417.1

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