Product Details

SNP ID

rs7152982

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:50540897 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACAGAGATTAGTGCCACCATTAAAG[A/C]TATGAAAGATACAAGTCTTTTCCTT

Phenotype

MIM: 606439 MIM: 604923

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

ATL1 PubMed Links

Additional Information

For this assay, SNP(s) [rs78607415] 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

ATL1

Gene Name

atlastin GTPase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127713.1		Intron			NP_001121185.1
NM_015915.4		Intron			NP_056999.2
NM_181598.3		Intron			NP_853629.2

Gene

MAP4K5

Gene Name

mitogen-activated protein kinase kinase kinase kinase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006575.4		Intron			NP_006566.2
NM_198794.2		Intron			NP_942089.1
XM_006720013.3		Intron			XP_006720076.1
XM_011536377.2		Intron			XP_011534679.1
XM_011536378.2		Intron			XP_011534680.1
XM_011536379.2		Intron			XP_011534681.1
XM_011536380.2		Intron			XP_011534682.1

View Full Product Details