C___2778364_20

SNP ID:

rs7143260

Gene

GPHN RDH12

Gene Name

gephyrin

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

Set Membership:

> HapMap

Chromosome Location:

Chr.14: 67714751 - 67714751 on Build GRCh38

Polymorphism:

A/G, Transition substitution

Context Sequence [VIC/FAM]:

TGAAATGGGATATAAGTTGAAAAGA[A/G]ACTAAGGGATTTTTGAAATTAAATG

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 603930 MIM: 608830
Literature Links:	GPHN PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global G (0.03) (0.97)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) G (0.13) (0.87)
SAS G (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.12) (0.88)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.00) (1.00)
AMR G (0.01) (0.99)

GPHN - gephyrin
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001024218.1		Intron			NP_001019389.1
NM_020806.4		Intron			NP_065857.1
XM_005267254.3		Intron			XP_005267311.1
XM_011536340.2		Intron			XP_011534642.1
XM_011536342.2		Intron			XP_011534644.1
XM_011536343.2		Intron			XP_011534645.1
XM_011536344.2		Intron			XP_011534646.1
XM_011536345.2		Intron			XP_011534647.1
XM_011536346.2		Intron			XP_011534648.1
XM_011536347.2		Intron			XP_011534649.1
XM_017020913.1		Intron			XP_016876402.1
XM_017020914.1		Intron			XP_016876403.1
XM_017020915.1		Intron			XP_016876404.1
XM_017020916.1		Intron			XP_016876405.1
XM_017020917.1		Intron			XP_016876406.1
XM_017020918.1		Intron			XP_016876407.1
XM_017020919.1		Intron			XP_016876408.1
XM_017020920.1		Intron			XP_016876409.1
XM_017020921.1		Intron			XP_016876410.1
XM_017020922.1		Intron			XP_016876411.1
XM_017020923.1		Intron			XP_016876412.1
XM_017020924.1		Intron			XP_016876413.1
XM_017020925.1		Intron			XP_016876414.1
XM_017020926.1		Intron			XP_016876415.1

RDH12 - retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_152443.2		Intron			NP_689656.2

More Information

• Set Membership: HapMap

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

Mo-molybdopterin cofactor biosynthetic process
molybdenum incorporation into molybdenum-molybdopterin complex
molybdopterin cofactor biosynthetic process
glycine receptor clustering
gamma-aminobutyric acid receptor clustering
retinoid metabolic process
visual perception
retinol metabolic process
photoreceptor cell maintenance
response to stimulus
oxidation-reduction process

Function(s)

protein binding
ATP binding
metal ion binding
molybdopterin adenylyltransferase activity
molybdopterin molybdotransferase activity
retinol dehydrogenase activity
NADP-retinol dehydrogenase activity