Product Details

SNP ID
rs141964854
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:102197545 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTTTGAAACTTTATTTTCCTCTT[C/T]GTTCATGAAACTGCTCTCATCATTT
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_001319988.1 301 Intron NP_001306917.1
NM_001319993.1 301 Intron NP_001306922.1
NM_001319994.1 301 Intron NP_001306923.1
NM_001319995.1 301 Intron NP_001306924.1
NM_001319996.1 301 Intron NP_001306925.1
NM_017915.4 301 Intron NP_060385.3
XM_011538509.1 301 Intron XP_011536811.1
XM_011538514.2 301 Intron XP_011536816.1
XM_011538515.1 301 Intron XP_011536817.1
XM_017019534.1 301 Intron XP_016875023.1
XM_017019535.1 301 Intron XP_016875024.1
XM_017019536.1 301 Intron XP_016875025.1
XM_017019537.1 301 Intron XP_016875026.1
XM_017019538.1 301 Intron XP_016875027.1
XM_017019539.1 301 Intron XP_016875028.1
XM_017019540.1 301 Intron XP_016875029.1
XM_017019541.1 301 Intron XP_016875030.1
XM_017019542.1 301 Intron XP_016875031.1
XM_017019543.1 301 Intron XP_016875032.1
XM_017019544.1 301 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_002674.3 301 Missense Mutation AAA,GAA K76E NP_002665.2
XM_017019483.1 301 Missense Mutation AAA,GAA K76E XP_016874972.1

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