Product Details

SNP ID

rs148145718

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:45461377 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTGCAGTGGCAGGGGGTGATCA[G/T]GGGGCTCTCATCATCTCCTTCACAG

Phenotype

MIM: 613335

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

LOC102724323 PubMed Links

Additional Information

For this assay, SNP(s) [rs3764990] 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

LOC102724323

Gene Name

uncharacterized LOC102724323

There are no transcripts associated with this gene.

Gene

MARCH8

Gene Name

membrane associated ring-CH-type finger 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002266.2	1874	Missense Mutation	ATG,CTG	M93L	NP_001002266.1
NM_001282866.1	1874	Missense Mutation	ATG,CTG	M375L	NP_001269795.1
NM_145021.5	1874	Missense Mutation	ATG,CTG	M93L	NP_659458.2
XM_005271804.2	1874	Missense Mutation	ATG,CTG	M375L	XP_005271861.1
XM_006717704.2	1874	Missense Mutation	ATG,CTG	M375L	XP_006717767.1
XM_011539492.2	1874	Missense Mutation	ATG,CTG	M375L	XP_011537794.1
XM_011539493.2	1874	Missense Mutation	ATG,CTG	M375L	XP_011537795.1
XM_011539494.2	1874	Missense Mutation	ATG,CTG	M375L	XP_011537796.1
XM_011539495.1	1874	Missense Mutation	ATG,CTG	M93L	XP_011537797.1
XM_017015894.1	1874	Missense Mutation	ATG,CTG	M93L	XP_016871383.1

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