Product Details

SNP ID

rs200258703

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100093122 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGGTGGCAAATATCACATCTGCT[A/G]GTCTCTGAGTCCTGAAGGAAATGAG

Phenotype

MIM: 602296 MIM: 614729 MIM: 600592 MIM: 612983 MIM: 612150 MIM: 612984

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

AP4M1 PubMed Links

Additional Information

For this assay, SNP(s) [rs1130958] 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

AP4M1

Gene Name

adaptor related protein complex 4 mu 1 subunit

There are no transcripts associated with this gene.

Gene

COPS6

Gene Name

COP9 signalosome subunit 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006833.4	2616	Intron			NP_006824.2

Gene

MCM7

Gene Name

minichromosome maintenance complex component 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278595.1	2616	Missense Mutation	CCA,CTA	P481L	NP_001265524.1
NM_005916.4	2616	Missense Mutation	CCA,CTA	P657L	NP_005907.3
NM_182776.2	2616	Missense Mutation	CCA,CTA	P481L	NP_877577.1
XM_005250348.3	2616	Missense Mutation	CCA,CTA	P550L	XP_005250405.1
XM_017012217.1	2616	Missense Mutation	CCA,CTA	P550L	XP_016867706.1

Gene

MIR106B

Gene Name

microRNA 106b

There are no transcripts associated with this gene.

Gene

MIR25

Gene Name

microRNA 25

There are no transcripts associated with this gene.

Gene

MIR93

Gene Name

microRNA 93

There are no transcripts associated with this gene.

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