Product Details

SNP ID
rs77298044
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24094411 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGCCCCTGCCCAGGTGCCATGGC[C/T]GCATTGTACCGCCCTGGCCTGCGGT
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_006177.3 131 Intron NP_006168.1
XM_005267708.4 131 Intron XP_005267765.1
XM_005267709.3 131 Intron XP_005267766.1
XM_005267710.3 131 Intron XP_005267767.1
XM_011536801.2 131 Intron XP_011535103.2
XM_011536802.1 131 Intron XP_011535104.1
XM_011536804.2 131 Intron XP_011535106.1
XM_011536805.2 131 Intron XP_011535107.1
XM_011536806.2 131 Intron XP_011535108.2
XM_017021350.1 131 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_001018073.2 131 Silent Mutation GCC,GCT A2A NP_001018083.2
NM_001291556.1 131 UTR 5 NP_001278485.1
NM_001308054.1 131 UTR 5 NP_001294983.1
NM_004563.3 131 Silent Mutation GCC,GCT A2A NP_004554.3
XM_006720158.2 131 Silent Mutation GCC,GCT A2A XP_006720221.1

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