Product Details

SNP ID
rs146317898
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:102197554 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTTATTTTCCTCTTCGTTCATGA[A/G]ACTGCTCTCATCATTTTTATATTGT
Phenotype
MIM: 613687 MIM: 176795
Polymorphism
A/G, 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_001319988.1 292 Intron NP_001306917.1
NM_001319993.1 292 Intron NP_001306922.1
NM_001319994.1 292 Intron NP_001306923.1
NM_001319995.1 292 Intron NP_001306924.1
NM_001319996.1 292 Intron NP_001306925.1
NM_017915.4 292 Intron NP_060385.3
XM_011538509.1 292 Intron XP_011536811.1
XM_011538514.2 292 Intron XP_011536816.1
XM_011538515.1 292 Intron XP_011536817.1
XM_017019534.1 292 Intron XP_016875023.1
XM_017019535.1 292 Intron XP_016875024.1
XM_017019536.1 292 Intron XP_016875025.1
XM_017019537.1 292 Intron XP_016875026.1
XM_017019538.1 292 Intron XP_016875027.1
XM_017019539.1 292 Intron XP_016875028.1
XM_017019540.1 292 Intron XP_016875029.1
XM_017019541.1 292 Intron XP_016875030.1
XM_017019542.1 292 Intron XP_016875031.1
XM_017019543.1 292 Intron XP_016875032.1
XM_017019544.1 292 Intron 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_002674.3 292 Missense Mutation CTC,TTC L73F NP_002665.2
XM_017019483.1 292 Missense Mutation CTC,TTC L73F XP_016874972.1

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