Product Details

SNP ID
rs150238269
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:24097135 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGAAAGCTCCCCAAGTACAATAA[A/C]TGGTAAGCCTTGGGCTCCACAACCT
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_006177.3 809 Intron NP_006168.1
XM_005267708.4 809 Intron XP_005267765.1
XM_005267709.3 809 Intron XP_005267766.1
XM_005267710.3 809 Intron XP_005267767.1
XM_011536801.2 809 Intron XP_011535103.2
XM_011536802.1 809 Intron XP_011535104.1
XM_011536804.2 809 Intron XP_011535106.1
XM_011536805.2 809 Intron XP_011535107.1
XM_011536806.2 809 Intron XP_011535108.2
XM_017021350.1 809 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_001018073.2 809 Missense Mutation AAA,AAC K91N NP_001018083.2
NM_001291556.1 809 Intron NP_001278485.1
NM_001308054.1 809 UTR 5 NP_001294983.1
NM_004563.3 809 Missense Mutation AAA,AAC K91N NP_004554.3
XM_006720158.2 809 Missense Mutation AAA,AAC K91N XP_006720221.1

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