Product Details

SNP ID
rs3806601
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:241149762 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTCTTTCTGAAGGCGGAGGACG[C/T]GGGGCGGCTCGTTCATGGGCCGGGT
Phenotype
MIM: 607505 MIM: 602877
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PASK PubMed Links

Gene Details

Gene
PASK
Gene Name
PAS domain containing serine/threonine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252119.1 503 Intron NP_001239048.1
NM_001252120.1 503 UTR 5 NP_001239049.1
NM_001252122.1 503 Intron NP_001239051.1
NM_001252124.1 503 Intron NP_001239053.1
NM_015148.3 503 Intron NP_055963.2
XM_005246991.1 503 Intron XP_005247048.1
XM_011510826.1 503 Intron XP_011509128.1
XM_011510828.1 503 Intron XP_011509130.1
XM_011510829.1 503 Intron XP_011509131.1
XM_011510830.1 503 Intron XP_011509132.1
XM_011510831.2 503 UTR 5 XP_011509133.1
XM_011510832.2 503 UTR 5 XP_011509134.1
XM_011510833.1 503 Intron XP_011509135.1
XM_011510834.1 503 Intron XP_011509136.1
XM_011510835.1 503 Intron XP_011509137.1
XM_017003634.1 503 Intron XP_016859123.1
XM_017003635.1 503 Intron XP_016859124.1
XM_017003636.1 503 Intron XP_016859125.1
Gene
PPP1R7
Gene Name
protein phosphatase 1 regulatory subunit 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282409.1 503 UTR 5 NP_001269338.1
NM_001282410.1 503 UTR 5 NP_001269339.1
NM_001282411.1 503 UTR 5 NP_001269340.1
NM_001282412.1 503 Intron NP_001269341.1
NM_001282413.1 503 Intron NP_001269342.1
NM_001282414.1 503 Intron NP_001269343.1
NM_002712.2 503 UTR 5 NP_002703.1
XM_011511388.1 503 Intron XP_011509690.1

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