Product Details

SNP ID
rs145115104
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:241153577 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTGAACAGAGCCTGAAGGATGGG[A/G]AGGAGCGGGGGGAGGAGGACCCAGA
Phenotype
MIM: 607505 MIM: 602877
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PASK PubMed Links

Gene Details

Gene
PASK
Gene Name
PAS domain containing serine/threonine kinase
There are no transcripts associated with this gene.

Gene
PPP1R7
Gene Name
protein phosphatase 1 regulatory subunit 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282409.1 992 Intron NP_001269338.1
NM_001282410.1 992 Missense Mutation AAG,GAG K52E NP_001269339.1
NM_001282411.1 992 Intron NP_001269340.1
NM_001282412.1 992 Missense Mutation AAG,GAG K36E NP_001269341.1
NM_001282413.1 992 Intron NP_001269342.1
NM_001282414.1 992 Intron NP_001269343.1
NM_002712.2 992 Missense Mutation AAG,GAG K52E NP_002703.1
XM_011511388.1 992 Intron XP_011509690.1

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