Product Details

SNP ID
rs199747837
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24098213 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCTCTCCCCCAGCTGGCTGGCC[C/T]GCACAGACCCCAAGGATGTGGCACG
Phenotype
MIM: 162080 MIM: 614095
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NRL PubMed Links

Gene Details

Gene
NRL
Gene Name
neural retina leucine zipper
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006177.3 822 Intron NP_006168.1
XM_005267708.4 822 Intron XP_005267765.1
XM_005267709.3 822 Intron XP_005267766.1
XM_005267710.3 822 Intron XP_005267767.1
XM_011536801.2 822 Intron XP_011535103.2
XM_011536802.1 822 Intron XP_011535104.1
XM_011536804.2 822 Intron XP_011535106.1
XM_011536805.2 822 Intron XP_011535107.1
XM_011536806.2 822 Intron XP_011535108.2
XM_017021350.1 822 Intron XP_016876839.1
Gene
PCK2
Gene Name
phosphoenolpyruvate carboxykinase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018073.2 822 Missense Mutation CGC,TGC R96C NP_001018083.2
NM_001291556.1 822 UTR 5 NP_001278485.1
NM_001308054.1 822 UTR 5 NP_001294983.1
NM_004563.3 822 Missense Mutation CGC,TGC R96C NP_004554.3
XM_006720158.2 822 Missense Mutation CGC,TGC R96C XP_006720221.1

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