Product Details

SNP ID

rs1242330

Assay Type

Functionally Tested

NCBI dbSNP Submissions

60

Location

Chr.1:52931170 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGAAAGGAAACAATAGCTGAGATA[G/T]ATCGGAAGATTTTTGGAAGATTCTG

Phenotype

MIM: 184755

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

ECHDC2 PubMed Links

Additional Information

For this assay, SNP(s) [rs113080929] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ECHDC2

Gene Name

enoyl-CoA hydratase domain containing 2

There are no transcripts associated with this gene.

Gene

MIR1273F

Gene Name

microRNA 1273f

There are no transcripts associated with this gene.

Gene

MIR1273G

Gene Name

microRNA 1273g

There are no transcripts associated with this gene.

Gene

MIR5095

Gene Name

microRNA 5095

There are no transcripts associated with this gene.

Gene

SCP2

Gene Name

sterol carrier protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007098.2		Intron			NP_001007099.1
NM_001007099.2		Intron			NP_001007100.1
NM_001007100.2		Intron			NP_001007101.1
NM_001007250.2		Intron			NP_001007251.1
NM_001193599.1		Intron			NP_001180528.1
NM_001193600.1		Intron			NP_001180529.1
NM_001193617.1		Intron			NP_001180546.1
NM_002979.4		Intron			NP_002970.2
XM_005271103.4		Intron			XP_005271160.1
XM_011541935.2		Intron			XP_011540237.1
XM_017002045.1		Intron			XP_016857534.1
XM_017002046.1		Intron			XP_016857535.1

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