Product Details

SNP ID
rs145413342
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:14503863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTGATGTAGAGTTTTGTTGAAA[C/T]GGTCCCAGCGAAAAACAGGGAGGCC
Phenotype
MIM: 613644
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATF7IP PubMed Links

Gene Details

Gene
ATF7IP
Gene Name
activating transcription factor 7 interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286514.1 1732 Intron NP_001273443.1
NM_001286515.1 1732 Intron NP_001273444.1
NM_018179.4 1732 Intron NP_060649.3
NM_181352.1 1732 Intron NP_851997.1
XM_005253424.3 1732 Intron XP_005253481.1
XM_006719108.3 1732 Intron XP_006719171.1
XM_006719109.3 1732 Intron XP_006719172.1
XM_011520754.2 1732 Intron XP_011519056.1
XM_011520755.2 1732 Intron XP_011519057.1
XM_011520756.2 1732 Intron XP_011519058.1
XM_017019638.1 1732 Intron XP_016875127.1
XM_017019639.1 1732 Intron XP_016875128.1
Gene
PLBD1
Gene Name
phospholipase B domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024829.5 1732 Missense Mutation CAT,CGT H524R NP_079105.4

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