Product Details

SNP ID
rs146279706
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:3754069 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGGCCTCGGGCCTCAGTCAAAGC[C/T]GTGCCAGTCGCTGTGCTCTGAGTCG
Phenotype
MIM: 610702
Polymorphism
C/T, 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 1197 Missense Mutation AGC,GGC S197G NP_001034229.1
NM_001258429.1 1197 Missense Mutation AGC,GGC S172G NP_001245358.1
NM_001258430.1 1197 Missense Mutation AGC,GGC S172G NP_001245359.1
XM_011529266.2 1197 Missense Mutation AGC,GGC S156G 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 1197 Intron NP_001184256.1
NM_001318322.1 1197 Intron NP_001305251.1
NM_052970.4 1197 Intron NP_443202.3
XM_011529151.2 1197 Intron XP_011527453.1
XM_017027632.1 1197 Intron XP_016883121.1
XM_017027633.1 1197 Intron XP_016883122.1
XM_017027634.1 1197 Intron XP_016883123.1
XM_017027635.1 1197 Intron XP_016883124.1

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