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Gene id 1082
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol CGB3   Gene   UCSC   Ensembl
Aliases CGB, CGB5, CGB7, CGB8, hCGB
Gene name chorionic gonadotropin beta subunit 3
Alternate names choriogonadotropin subunit beta 3, CG-beta, chorionic gonadotrophin chain beta, chorionic gonadotropin beta 3 subunit, chorionic gonadotropin beta chain, chorionic gonadotropin chain beta, chorionic gonadotropin, beta polypeptide,
Gene location 19q13.33 (49024374: 49022868)     Exons: 3     NC_000019.10
Gene summary(Entrez) This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biologi
OMIM 118860

SNPs


rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category
Associated diseases References
Pregnancy loss GAD: 19002615
Recurrent pregnancy loss (RPL) INFBASE: 23499152
Polycystic ovary syndrome (PCOS) INFBASE: 24916516
Cryptorchidism MIK: 6111456
Male factor infertility MIK: 6111456
Disorders of HCG production INFBASE: 9237259
Female infertility INFBASE: 7202754
Ectopic pregnancy INFBASE: 484213
Cryptorchidism MIK: 6111456

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
6111456 Cryptorchi
dism

21 (8 cryptorch
id, 13 normal n
ewborns )
Male infertility
Show abstract