Product Details

SNP ID

rs953634

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:32731293 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGAAAAGTACCAAAAATGTGACTTT[A/C]TTAACCCTTGGGAAGAACTGAAATT

Phenotype

MIM: 603850 MIM: 610957

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

DNM1L PubMed Links

Additional Information

For this assay, SNP(s) [rs138148657] 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

DNM1L

Gene Name

dynamin 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278463.1		Intron			NP_001265392.1
NM_001278464.1		Intron			NP_001265393.1
NM_001278465.1		Intron			NP_001265394.1
NM_001278466.1		Intron			NP_001265395.1
NM_005690.4		Intron			NP_005681.2
NM_012062.4		Intron			NP_036192.2
NM_012063.3		Intron			NP_036193.2
XM_005253282.4		Intron			XP_005253339.1
XM_011520543.2		Intron			XP_011518845.1
XM_011520544.2		Intron			XP_011518846.1
XM_017018663.1		Intron			XP_016874152.1
XM_017018664.1		Intron			XP_016874153.1
XM_017018665.1		Intron			XP_016874154.1

Gene

YARS2

Gene Name

tyrosyl-tRNA synthetase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040436.2		Intron			NP_001035526.1

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