Product Details

SNP ID
rs1600
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.12:14503834 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
ATAAAATCAAAGTTGTAGACCTCTG[C/G]CATGCCCTGATGTAGAGTTTTGTTG
Phenotype
MIM: 613644
Polymorphism
C/G, Transversion 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 1761 Intron NP_001273443.1
NM_001286515.1 1761 Intron NP_001273444.1
NM_018179.4 1761 Intron NP_060649.3
NM_181352.1 1761 Intron NP_851997.1
XM_005253424.3 1761 Intron XP_005253481.1
XM_006719108.3 1761 Intron XP_006719171.1
XM_006719109.3 1761 Intron XP_006719172.1
XM_011520754.2 1761 Intron XP_011519056.1
XM_011520755.2 1761 Intron XP_011519057.1
XM_011520756.2 1761 Intron XP_011519058.1
XM_017019638.1 1761 Intron XP_016875127.1
XM_017019639.1 1761 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 1761 Missense Mutation CCA,GCA P534A NP_079105.4

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