Product Details

SNP ID
rs144449947
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24098305 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACGGTACCACTCCCGCCTGGTGG[A/G]GCCCGTGGGCAGCTGGGCAACTGGA
Phenotype
MIM: 162080 MIM: 614095
Polymorphism
A/G, 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_006177.3 914 Intron NP_006168.1
XM_005267708.4 914 Intron XP_005267765.1
XM_005267709.3 914 Intron XP_005267766.1
XM_005267710.3 914 Intron XP_005267767.1
XM_011536801.2 914 Intron XP_011535103.2
XM_011536802.1 914 Intron XP_011535104.1
XM_011536804.2 914 Intron XP_011535106.1
XM_011536805.2 914 Intron XP_011535107.1
XM_011536806.2 914 Intron XP_011535108.2
XM_017021350.1 914 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_001018073.2 914 Silent Mutation GGA,GGG G126G NP_001018083.2
NM_001291556.1 914 UTR 5 NP_001278485.1
NM_001308054.1 914 UTR 5 NP_001294983.1
NM_004563.3 914 Silent Mutation GGA,GGG G126G NP_004554.3
XM_006720158.2 914 Silent Mutation GGA,GGG G126G XP_006720221.1

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