C___2552141_20

SNP ID:

rs801559

Gene

LOC340074 SLC25A48

Gene Name

uncharacterized LOC340074

solute carrier family 25 member 48

Set Membership:

> HapMap

Chromosome Location:

Chr.5: 135651439 - 135651439 on Build GRCh38

Polymorphism:

T/C, Transition substitution

Context Sequence [VIC/FAM]:

TGTGTGGACACCTTCCCCTGACACC[T/C]TAGTAGGCAGATTCCCAGCAAGTCC

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 616150
Literature Links:	LOC340074 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global G (0.42) (0.58)	Caucasian - Not Available	CEPH (CEU) G (0.26) (0.74)
EAS A (0.38) (0.62)	African American - Not Available	YRI (Yoruba) G (0.39) (0.61)
SAS G (0.39) (0.61)	Chinese - Not Available	JPT (Japanese) A (0.38) (0.62)
AFR G (0.39) (0.61)	Japanese - Not Available	CHB (Han Chinese) A (0.37) (0.63)
EUR G (0.30) (0.70)
AMR G (0.42) (0.58)

LOC340074 - uncharacterized LOC340074
There are no transcripts associated with this gene.

SLC25A48 - solute carrier family 25 member 48
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_145282.4		Intron			NP_660325.4
XM_005271903.1		Intron			XP_005271960.1
XM_006714544.1		Intron			XP_006714607.1
XM_006714546.1		Intron			XP_006714609.1
XM_006714550.1		Intron			XP_006714613.1
XM_006714552.2		Intron			XP_006714615.1
XM_011543196.1		Intron			XP_011541498.1
XM_011543199.1		Intron			XP_011541501.1
XM_017009086.1		Intron			XP_016864575.1
XM_017009087.1		Intron			XP_016864576.1
XM_017009088.1		Intron			XP_016864577.1
XM_017009089.1		Intron			XP_016864578.1
XM_017009090.1		Intron			XP_016864579.1
XM_017009091.1		Intron			XP_016864580.1
XM_017009092.1		Intron			XP_016864581.1

More Information

• Set Membership: HapMap

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

translation
transmembrane transport

Function(s)

structural constituent of ribosome
protein binding