Product Details

SNP ID

rs200453640

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24214063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCTCCTCAAGGCTGGACCTCAA[A/G]GGCCCAGTTTGGGCCTTCGCAAATG

Phenotype

MIM: 610051 MIM: 603171 MIM: 610711

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CHMP4A PubMed Links

Additional Information

For this assay, SNP(s) [rs3215610] 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

CHMP4A

Gene Name

charged multivesicular body protein 4A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014169.3	467	Intron			NP_054888.2

Gene

MDP1

Gene Name

magnesium dependent phosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199821.1	467	Missense Mutation	CTT,TTT	L118F	NP_001186750.1
NM_001199822.1	467	UTR 3			NP_001186751.1
NM_138476.3	467	Silent Mutation	CCC,CCT	P164P	NP_612485.2

Gene

NEDD8

Gene Name

neural precursor cell expressed, developmentally down-regulated 8

There are no transcripts associated with this gene.

Gene

NEDD8-MDP1

Gene Name

NEDD8-MDP1 readthrough

There are no transcripts associated with this gene.

Gene

TSSK4

Gene Name

testis specific serine kinase 4

There are no transcripts associated with this gene.

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