| Variant ID | 25750 |
|---|---|
| Entrez Gene ID | 2638 |
| Gene | GC (GeneCards) |
| Location | hg19 4:72740409-72740409
hg38 4:71874692-71874692 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000004.11:g.72740409 G>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0.0096 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs183953572 |
| EIGEN score | -0.1748 |
| CADD Raw score (version 1.3) | 0.343056 (Deleterious) |
| FATHMM raw prediction score | 0.16325 (Tolerated) |
| Deleterious probability by DeFine | 0.0855 (Neutral) |
| Entrez Gene ID | 2638 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GC (GeneCards) |
| Number of variants in GC in this database | 6 (view all the variants) |
| Full name | GC, vitamin D binding protein |
| Band | 4q13.3 |
| Other IDs | Vega: OTTHUMG00000129915 OMIM: 139200 HGNC: HGNC:4187 Ensembl: ENSG00000145321 |
| Other names | DBP, VDB, GRD3, VDBG, VDBP, GcMAF, DBP/GC, Gc-MAF, DBP-maf, HEL-S-51 |
| Summary | The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |