Product Details

SNP ID: rs188911161
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:24207261 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCTGTGGGTTGTAGCCCTTCTTAC[C/T]GCCAAGTGAACTGCTTTTCCCACCT
Phenotype: MIM: 610051 MIM: 603171 MIM: 610711
Polymorphism: C/T, 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
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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184739.1	790	Missense Mutation	CGC,TGC	R196C	NP_001171668.1
NM_001308067.1	790	Missense Mutation	CGC,TGC	R110C	NP_001294996.1
NM_174944.3	790	Missense Mutation	CGC,TGC	R186C	NP_777604.2
XM_011536663.2	790	Missense Mutation	CGC,TGC	R120C	XP_011534965.1
XM_017021226.1	790	Missense Mutation	CGC,TGC	R186C	XP_016876715.1

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