Product Details

SNP ID
rs200792430
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24097059 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGGCATCCACATCTGTGATGGAA[C/G]TGAGGCTGAGAATACTGCCACACTG
Phenotype
MIM: 162080 MIM: 614095
Polymorphism
C/G, 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_006177.3 733 Intron NP_006168.1
XM_005267708.4 733 Intron XP_005267765.1
XM_005267709.3 733 Intron XP_005267766.1
XM_005267710.3 733 Intron XP_005267767.1
XM_011536801.2 733 Intron XP_011535103.2
XM_011536802.1 733 Intron XP_011535104.1
XM_011536804.2 733 Intron XP_011535106.1
XM_011536805.2 733 Intron XP_011535107.1
XM_011536806.2 733 Intron XP_011535108.2
XM_017021350.1 733 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_001018073.2 733 Missense Mutation ACT,AGT T66S NP_001018083.2
NM_001291556.1 733 Intron NP_001278485.1
NM_001308054.1 733 UTR 5 NP_001294983.1
NM_004563.3 733 Missense Mutation ACT,AGT T66S NP_004554.3
XM_006720158.2 733 Missense Mutation ACT,AGT T66S XP_006720221.1

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