Product Details

SNP ID
rs138047874
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:103362020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATACATTATCAACGTAAAGCAGTT[C/T]GCCAAGTTTGTGGTGGACCTTAGTG
Phenotype
MIM: 154365 MIM: 604943
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
PSMC2 PubMed Links

Gene Details

Gene
PSMC2
Gene Name
proteasome 26S subunit, ATPase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204453.1 663 Silent Mutation TTC,TTT F118F NP_001191382.1
NM_002803.3 663 Silent Mutation TTC,TTT F118F NP_002794.1
XM_005250505.1 663 Silent Mutation TTC,TTT F118F XP_005250562.1
Gene
SLC26A5
Gene Name
solute carrier family 26 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167962.1 663 Intron NP_001161434.1
NM_001321787.1 663 Intron NP_001308716.1
NM_198999.2 663 Intron NP_945350.1
NM_206883.2 663 Intron NP_996766.1
NM_206884.2 663 Intron NP_996767.1
NM_206885.2 663 Intron NP_996768.1
XM_011516170.2 663 Intron XP_011514472.1

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