Product Details

SNP ID
rs75550908
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:43659677 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGCGGGCGCGATGGCCCCCGCC[A/G]TGCAGCCGGCCGAGATCCAATTTGC
Phenotype
MIM: 604554 MIM: 610654
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HSF2BP PubMed Links

Gene Details

Gene
HSF2BP
Gene Name
heat shock transcription factor 2 binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007031.1 127 Intron NP_008962.1
XM_011529443.2 127 Intron XP_011527745.2
XM_011529445.2 127 Intron XP_011527747.2
XM_011529446.2 127 Intron XP_011527748.1
XM_011529447.2 127 Intron XP_011527749.1
XM_017028267.1 127 Intron XP_016883756.1
XM_017028268.1 127 Intron XP_016883757.1
XM_017028269.1 127 Intron XP_016883758.1
XM_017028270.1 127 Intron XP_016883759.1
XM_017028271.1 127 Intron XP_016883760.1
XM_017028272.1 127 Intron XP_016883761.1
Gene
RRP1B
Gene Name
ribosomal RNA processing 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015056.2 127 Missense Mutation ATG,GTG M5V NP_055871.1

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