Product Details

SNP ID
rs201059299
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24097019 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGAGATTTTGTAGAGCACAGTGCC[A/C]GCCTGTGCCAACCAGAGGGCATCCA
Phenotype
MIM: 162080 MIM: 614095
Polymorphism
A/C, 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_006177.3 693 Intron NP_006168.1
XM_005267708.4 693 Intron XP_005267765.1
XM_005267709.3 693 Intron XP_005267766.1
XM_005267710.3 693 Intron XP_005267767.1
XM_011536801.2 693 Intron XP_011535103.2
XM_011536802.1 693 Intron XP_011535104.1
XM_011536804.2 693 Intron XP_011535106.1
XM_011536805.2 693 Intron XP_011535107.1
XM_011536806.2 693 Intron XP_011535108.2
XM_017021350.1 693 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_001018073.2 693 Missense Mutation AGC,CGC S53R NP_001018083.2
NM_001291556.1 693 Intron NP_001278485.1
NM_001308054.1 693 UTR 5 NP_001294983.1
NM_004563.3 693 Missense Mutation AGC,CGC S53R NP_004554.3
XM_006720158.2 693 Missense Mutation AGC,CGC S53R XP_006720221.1

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