Product Details

SNP ID
rs137938169
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42125847 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGGAGGTCCACACCTCGGTTT[C/T]GGCCTGGAGCACCAGTTGCATTCTG
Phenotype
MIM: 608344 MIM: 602301 MIM: 604037
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HSPB9 PubMed Links

Gene Details

Gene
HSPB9
Gene Name
heat shock protein family B (small) member 9
There are no transcripts associated with this gene.

Gene
KAT2A
Gene Name
lysine acetyltransferase 2A
There are no transcripts associated with this gene.

Gene
RAB5C
Gene Name
RAB5C, member RAS oncogene family
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252039.1 766 Missense Mutation CAA,CGA Q229R NP_001238968.1
NM_004583.3 766 Missense Mutation CAA,CGA Q196R NP_004574.2
NM_201434.2 766 Missense Mutation CAA,CGA Q196R NP_958842.1
XM_011525090.1 766 Missense Mutation CAA,CGA Q196R XP_011523392.1
XM_011525091.1 766 Missense Mutation CAA,CGA Q196R XP_011523393.1

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