Product Details

SNP ID
rs145305097
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:37088440 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTCTGATTCCTTCATTAATGTCC[A/G]GTAAGTAAATGTGCACACCCAGTGC
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GPATCH11 PubMed Links

Gene Details

Gene
GPATCH11
Gene Name
G-patch domain containing 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278505.1 192 Missense Mutation AGG,GGG R3G NP_001265434.1
NM_001322249.1 192 Missense Mutation CAA,CGA Q42R NP_001309178.1
NM_174931.3 192 Missense Mutation CAA,CGA Q42R NP_777591.3
XM_017003748.1 192 Intron XP_016859237.1
Gene
HEATR5B
Gene Name
HEAT repeat containing 5B
There are no transcripts associated with this gene.

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