Product Details

SNP ID
rs138965807
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24098219 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCCCCAGCTGGCTGGCCCGCACA[G/T]ACCCCAAGGATGTGGCACGAGTAGA
Phenotype
MIM: 162080 MIM: 614095
Polymorphism
G/T, Transversion 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_006177.3 828 Intron NP_006168.1
XM_005267708.4 828 Intron XP_005267765.1
XM_005267709.3 828 Intron XP_005267766.1
XM_005267710.3 828 Intron XP_005267767.1
XM_011536801.2 828 Intron XP_011535103.2
XM_011536802.1 828 Intron XP_011535104.1
XM_011536804.2 828 Intron XP_011535106.1
XM_011536805.2 828 Intron XP_011535107.1
XM_011536806.2 828 Intron XP_011535108.2
XM_017021350.1 828 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_001018073.2 828 Missense Mutation GAC,TAC D98Y NP_001018083.2
NM_001291556.1 828 UTR 5 NP_001278485.1
NM_001308054.1 828 UTR 5 NP_001294983.1
NM_004563.3 828 Missense Mutation GAC,TAC D98Y NP_004554.3
XM_006720158.2 828 Missense Mutation GAC,TAC D98Y XP_006720221.1

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