Product Details

SNP ID
rs141575450
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89658269 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGGTGAGGAGCAAAAGAAGGGAT[C/T]CACCTATTCAGTTCCAAAATCTAAG
Phenotype
MIM: 164010 MIM: 615409
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CHMP1A PubMed Links

Gene Details

Gene
CHMP1A
Gene Name
charged multivesicular body protein 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001083314.3 167 Intron NP_001076783.1
NM_002768.4 167 Intron NP_002759.2
XM_011523098.1 167 Intron XP_011521400.1
Gene
SPATA33
Gene Name
spermatogenesis associated 33
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271907.1 167 Missense Mutation TCC,TTC S20F NP_001258836.1
NM_001271908.1 167 UTR 5 NP_001258837.1
NM_001271909.1 167 UTR 5 NP_001258838.1
NM_001271910.1 167 Missense Mutation TCC,TTC S20F NP_001258839.1
NM_153025.2 167 Missense Mutation TCC,TTC S19F NP_694570.1
XM_006721133.2 167 Missense Mutation TCC,TTC S20F XP_006721196.1

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