Product Details

SNP ID

rs2759410

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24095770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCAGAGCAGACGTTGCTTCTCTG[G/T]CTCCCAGGGCCATGAGAGGACAGAC

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	481	Intron			NP_006168.1
XM_005267708.4	481	Intron			XP_005267765.1
XM_005267709.3	481	Intron			XP_005267766.1
XM_005267710.3	481	Intron			XP_005267767.1
XM_011536801.2	481	Intron			XP_011535103.2
XM_011536802.1	481	UTR 5			XP_011535104.1
XM_011536804.2	481	Intron			XP_011535106.1
XM_011536805.2	481	Intron			XP_011535107.1
XM_011536806.2	481	Intron			XP_011535108.2
XM_017021350.1	481	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	481	Intron			NP_001018083.2
NM_001291556.1	481	Intron			NP_001278485.1
NM_001308054.1	481	Intron			NP_001294983.1
NM_004563.3	481	Intron			NP_004554.3
XM_006720158.2	481	Intron			XP_006720221.1

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