Product Details

SNP ID
rs45519431
Assay Type
Functionally Tested
NCBI dbSNP Submissions
15
Location
Chr.1:45694452 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAATCCCCTTTGTTAGAGTCTTG[C/T]GATCATTGAAAAGAATGCACATATT
Phenotype
MIM: 147485
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
GPBP1L1 PubMed Links

Gene Details

Gene
GPBP1L1
Gene Name
GC-rich promoter binding protein 1 like 1
There are no transcripts associated with this gene.

Gene
IPP
Gene Name
intracisternal A particle-promoted polypeptide
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145349.1 1982 Missense Mutation NP_001138821.1
NM_005897.2 1982 Intron NP_005888.1
XM_005270839.4 1982 Intron XP_005270896.1
XM_006710623.3 1982 Intron XP_006710686.1
XM_011541394.2 1982 Intron XP_011539696.1
XM_017001210.1 1982 Intron XP_016856699.1
Gene
TMEM69
Gene Name
transmembrane protein 69
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016486.3 1982 Intron NP_057570.2

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