Product Details

SNP ID
rs138622685
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74534618 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGTTGTGGATCTGGGAGGAGAAT[C/T]GGAGCAGACGCCGGTGACCATAGGG
Phenotype
MIM: 602434 MIM: 606441 MIM: 607163
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
AUP1 PubMed Links

Gene Details

Gene
AUP1
Gene Name
ancient ubiquitous protein 1
There are no transcripts associated with this gene.

Gene
DQX1
Gene Name
DEAQ-box RNA dependent ATPase 1
There are no transcripts associated with this gene.

Gene
HTRA2
Gene Name
HtrA serine peptidase 2
There are no transcripts associated with this gene.

Gene
LOXL3
Gene Name
lysyl oxidase like 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289164.1 1797 Missense Mutation CAA,CGA Q434R NP_001276093.1
NM_001289165.1 1797 Missense Mutation CAA,CGA Q218R NP_001276094.1
NM_032603.3 1797 Missense Mutation CAA,CGA Q579R NP_115992.1
XM_011533134.2 1797 Missense Mutation CAA,CGA Q579R XP_011531436.1
XM_017005112.1 1797 Missense Mutation CAA,CGA Q218R XP_016860601.1

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