Product Details

SNP ID
rs113052015
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:5106485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCAATGATCCTTTGTCCTTGGGC[C/T]CTGGGCCATCTTCTGTAACAACTGA
Phenotype
MIM: 604334 MIM: 616463
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC101928000 PubMed Links

Gene Details

Gene
LOC101928000
Gene Name
uncharacterized LOC101928000
There are no transcripts associated with this gene.

Gene
USP6
Gene Name
ubiquitin specific peptidase 6
There are no transcripts associated with this gene.

Gene
ZNF232
Gene Name
zinc finger protein 232
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320952.1 792 Missense Mutation GAG,GGG E216G NP_001307881.1
NM_001320953.1 792 Missense Mutation GAG,GGG E198G NP_001307882.1
NM_001320954.1 792 Missense Mutation GAG,GGG E198G NP_001307883.1
NM_001320955.1 792 Missense Mutation GAG,GGG E197G NP_001307884.1
NM_014519.3 792 Missense Mutation GAG,GGG E225G NP_055334.2
XM_011524006.2 792 Missense Mutation GAG,GGG E177G XP_011522308.1
XM_017025021.1 792 Missense Mutation GAG,GGG E225G XP_016880510.1
XM_017025022.1 792 Missense Mutation GAG,GGG E149G XP_016880511.1
XM_017025023.1 792 Missense Mutation GAG,GGG E140G XP_016880512.1

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