Product Details

SNP ID

rs2759409

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.14:24098095 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ACTGAGATGTGATTGGGTGGGGAAA[A/C]ATAAGGCCAACAGAAGACCTGGAGT

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

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