Product Details

SNP ID

rs143912363

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24206554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGTACCTCATCAACTTCTATCGG[A/G]CCATTGAGAGCACATCTCGAGTATA

Phenotype

MIM: 610051 MIM: 610711

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHMP4A PubMed Links

Gene Details

Gene

CHMP4A

Gene Name

charged multivesicular body protein 4A

There are no transcripts associated with this gene.

Gene

MDP1

Gene Name

magnesium dependent phosphatase 1

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184739.1	475	Missense Mutation	ACC,GCC	T91A	NP_001171668.1
NM_001308067.1	475	Missense Mutation	ACC,GCC	T15A	NP_001294996.1
NM_174944.3	475	Missense Mutation	ACC,GCC	T91A	NP_777604.2
XM_011536663.2	475	Missense Mutation	ACC,GCC	T15A	XP_011534965.1
XM_017021226.1	475	Missense Mutation	ACC,GCC	T91A	XP_016876715.1

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