Product Details

SNP ID
rs140010118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:102197102 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGAAAGCTACAGATCCTTTTAGTG[C/T]AAGATAAGGTTTTATAGCCAGATTC
Phenotype
MIM: 613687 MIM: 176795
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PARPBP PubMed Links

Gene Details

Gene
PARPBP
Gene Name
PARP1 binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319988.1 394 UTR 3 NP_001306917.1
NM_001319993.1 394 UTR 3 NP_001306922.1
NM_001319994.1 394 UTR 3 NP_001306923.1
NM_001319995.1 394 Intron NP_001306924.1
NM_001319996.1 394 Intron NP_001306925.1
NM_017915.4 394 UTR 3 NP_060385.3
XM_011538509.1 394 UTR 3 XP_011536811.1
XM_011538514.2 394 UTR 3 XP_011536816.1
XM_011538515.1 394 UTR 3 XP_011536817.1
XM_017019534.1 394 UTR 3 XP_016875023.1
XM_017019535.1 394 UTR 3 XP_016875024.1
XM_017019536.1 394 UTR 3 XP_016875025.1
XM_017019537.1 394 UTR 3 XP_016875026.1
XM_017019538.1 394 UTR 3 XP_016875027.1
XM_017019539.1 394 UTR 3 XP_016875028.1
XM_017019540.1 394 UTR 3 XP_016875029.1
XM_017019541.1 394 Intron XP_016875030.1
XM_017019542.1 394 UTR 3 XP_016875031.1
XM_017019543.1 394 UTR 3 XP_016875032.1
XM_017019544.1 394 UTR 3 XP_016875033.1
Gene
PMCH
Gene Name
pro-melanin concentrating hormone
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002674.3 394 Missense Mutation ACA,GCA T107A NP_002665.2
XM_017019483.1 394 Missense Mutation ACA,GCA T107A XP_016874972.1

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