Product Details

SNP ID

rs201087098

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8421998 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCGGCTCCTCTCCACCGTCATCC[A/G]TGCCTTGGACACACCGAGGTGAGTG

Phenotype

MIM: 613332

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

MARCH2 PubMed Links

Additional Information

For this assay, SNP(s) [rs1133893] are located under a probe 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

MARCH2

Gene Name

membrane associated ring-CH-type finger 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005415.1	328	Missense Mutation	CAT,CGT	H53R	NP_001005415.1
NM_001005416.1	328	Missense Mutation	CAT,CGT	H53R	NP_001005416.1
NM_016496.4	328	Missense Mutation	CAT,CGT	H53R	NP_057580.3
XM_006722763.3	328	Missense Mutation	CAT,CGT	H53R	XP_006722826.1
XM_011528046.2	328	Missense Mutation	CAT,CGT	H53R	XP_011526348.1
XM_011528047.2	328	Missense Mutation	CAT,CGT	H53R	XP_011526349.1
XM_017026853.1	328	Missense Mutation	CAT,CGT	H53R	XP_016882342.1
XM_017026854.1	328	Missense Mutation	ATG,GTG	M10V	XP_016882343.1

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