Product Details

SNP ID
rs142093145
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:50523725 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAGAGGCCGTCAGGGTTGAGCAG[A/G]TAGATGGCAATGGAGTGGTCCACGA
Phenotype
MIM: 611230 MIM: 604272 MIM: 131222
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
NCAPH2 PubMed Links

Gene Details

Gene
NCAPH2
Gene Name
non-SMC condensin II complex subunit H2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001185011.1 834 UTR 3 NP_001171940.1
NM_014551.4 834 Intron NP_055366.3
NM_152299.3 834 UTR 3 NP_689512.2
XM_005261912.4 834 Intron XP_005261969.1
XM_011530685.2 834 Intron XP_011528987.1
XM_017028793.1 834 Intron XP_016884282.1
Gene
ODF3B
Gene Name
outer dense fiber of sperm tails 3B
There are no transcripts associated with this gene.

Gene
SCO2
Gene Name
SCO2 cytochrome c oxidase assembly protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001169109.1 834 Silent Mutation TAC,TAT Y229Y NP_001162580.1
NM_001169110.1 834 Silent Mutation TAC,TAT Y229Y NP_001162581.1
NM_001169111.1 834 Silent Mutation TAC,TAT Y229Y NP_001162582.1
NM_005138.2 834 Silent Mutation TAC,TAT Y229Y NP_005129.2
Gene
TYMP
Gene Name
thymidine phosphorylase
There are no transcripts associated with this gene.

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