Product Details

SNP ID
rs11539186
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:3754084 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTCAAAGCCGTGCCAGTCGCTGT[A/G]CTCTGAGTCGTATTCCAGCTCGGCG
Phenotype
MIM: 610702
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C20orf27 PubMed Links

Gene Details

Gene
C20orf27
Gene Name
chromosome 20 open reading frame 27
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039140.2 1182 Missense Mutation CAC,TAC H192Y NP_001034229.1
NM_001258429.1 1182 Missense Mutation CAC,TAC H167Y NP_001245358.1
NM_001258430.1 1182 Missense Mutation CAC,TAC H167Y NP_001245359.1
XM_011529266.2 1182 Missense Mutation CAC,TAC H151Y XP_011527568.1
Gene
HSPA12B
Gene Name
heat shock protein family A (Hsp70) member 12B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001197327.1 1182 Intron NP_001184256.1
NM_001318322.1 1182 Intron NP_001305251.1
NM_052970.4 1182 Intron NP_443202.3
XM_011529151.2 1182 Intron XP_011527453.1
XM_017027632.1 1182 Intron XP_016883121.1
XM_017027633.1 1182 Intron XP_016883122.1
XM_017027634.1 1182 Intron XP_016883123.1
XM_017027635.1 1182 Intron XP_016883124.1

View Full Product Details