C__30382133_10

SNP ID:

rs9999097

Gene

C4orf47 CCDC110

Gene Name

chromosome 4 open reading frame 47

coiled-coil domain containing 110

Set Membership:

> HapMap

Chromosome Location:

Chr.4: 185459443 - 185459443 on Build GRCh38

Polymorphism:

G/T, Transversion substitution

Context Sequence [VIC/FAM]:

TGTTTTGTTTGGTCGAGGAAGGACA[G/T]TGTGTATCTTGGAACTCTGGAATGG

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 609488
Literature Links:	C4orf47 PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global T (0.01) (0.99)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) T (0.07) (0.93)
SAS T (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.05) (0.95)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.00) (1.00)
AMR T (0.00) (1.00)

C4orf47 - chromosome 4 open reading frame 47
There are no transcripts associated with this gene.

CCDC110 - coiled-coil domain containing 110
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001145411.1	1213	Missense Mutation	ATG,CTG	M,L 345	NP_001138883.1
NM_152775.3	1213	Missense Mutation	ATG,CTG	M,L 382	NP_689988.1
XM_005262891.3	1213	Missense Mutation	ATG,CTG	M,L 382	XP_005262948.1
XM_006714172.2	1213	Missense Mutation	ATG,CTG	M,L 382	XP_006714235.1
XM_011531827.2	1213	Missense Mutation	ATG,CTG	M,L 382	XP_011530129.1
XM_011531828.2	1213	Missense Mutation	ATG,CTG	M,L 362	XP_011530130.1
XM_011531829.2	1213	Missense Mutation	ATG,CTG	M,L 312	XP_011530131.1
XM_017007987.1	1213	Missense Mutation	ATG,CTG	M,L 312	XP_016863476.1
XM_017007988.1	1213	Missense Mutation	ATG,CTG	M,L 312	XP_016863477.1

More Information

• Set Membership: HapMap

Panther Classification:

Molecular Function -

structural protein

Gene Ontology Categories:

Function(s)

protein binding