Product Details

SNP ID
rs151112797
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24096959 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGTAGCATCCAGACCCTGCGAGTG[C/T]TTAGTGGAGATCTGGGCCAGCTTCC
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_006177.3 633 Intron NP_006168.1
XM_005267708.4 633 Intron XP_005267765.1
XM_005267709.3 633 Intron XP_005267766.1
XM_005267710.3 633 Intron XP_005267767.1
XM_011536801.2 633 Intron XP_011535103.2
XM_011536802.1 633 Intron XP_011535104.1
XM_011536804.2 633 Intron XP_011535106.1
XM_011536805.2 633 Intron XP_011535107.1
XM_011536806.2 633 Intron XP_011535108.2
XM_017021350.1 633 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_001018073.2 633 Missense Mutation CTT,TTT L33F NP_001018083.2
NM_001291556.1 633 Intron NP_001278485.1
NM_001308054.1 633 UTR 5 NP_001294983.1
NM_004563.3 633 Missense Mutation CTT,TTT L33F NP_004554.3
XM_006720158.2 633 Missense Mutation CTT,TTT L33F XP_006720221.1

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