Product Details

SNP ID

rs2229660

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24096954 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCATGCCGTAGCATCCAGACCCTGC[A/G]AGTGCTTAGTGGAGATCTGGGCCAG

Phenotype

MIM: 162080 MIM: 614095

Polymorphism

A/G, 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	628	Intron			NP_006168.1
XM_005267708.4	628	Intron			XP_005267765.1
XM_005267709.3	628	Intron			XP_005267766.1
XM_005267710.3	628	Intron			XP_005267767.1
XM_011536801.2	628	Intron			XP_011535103.2
XM_011536802.1	628	Intron			XP_011535104.1
XM_011536804.2	628	Intron			XP_011535106.1
XM_011536805.2	628	Intron			XP_011535107.1
XM_011536806.2	628	Intron			XP_011535108.2
XM_017021350.1	628	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	628	Missense Mutation	CAA,CGA	Q31R	NP_001018083.2
NM_001291556.1	628	Intron			NP_001278485.1
NM_001308054.1	628	UTR 5			NP_001294983.1
NM_004563.3	628	Missense Mutation	CAA,CGA	Q31R	NP_004554.3
XM_006720158.2	628	Missense Mutation	CAA,CGA	Q31R	XP_006720221.1

View Full Product Details