Product Details

SNP ID
rs17366517
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:11180542 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AAAACATTCACTGTACATTAATTTC[A/G]ACAGTAATACCGGCACCAGTTTTCC
Phenotype
MIM: 604002
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PQLC3 PubMed Links

Gene Details

Gene
PQLC3
Gene Name
PQ loop repeat containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282710.1 7114 Intron NP_001269639.1
NM_001282711.1 7114 Intron NP_001269640.1
NM_001282712.1 7114 Intron NP_001269641.1
NM_152391.4 7114 Intron NP_689604.1
Gene
ROCK2
Gene Name
Rho associated coiled-coil containing protein kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321643.1 7114 UTR 3 NP_001308572.1
NM_004850.4 7114 UTR 3 NP_004841.2
XM_005246190.3 7114 UTR 3 XP_005246247.1
XM_011510417.2 7114 UTR 3 XP_011508719.1
XM_017005378.1 7114 Intron XP_016860867.1
XM_017005379.1 7114 UTR 3 XP_016860868.1

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