Product Details

SNP ID
rs1060126
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:21501897 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CCCACCCTGGGCTTTCCGAGGTGCT[G/T]TCGCCGCTGTCCCCACCACTGCAGC
Phenotype
MIM: 615078 MIM: 600537
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GOLT1B PubMed Links

Gene Details

Gene
GOLT1B
Gene Name
golgi transport 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016072.4 133 UTR 5 NP_057156.1
XM_017019384.1 133 UTR 5 XP_016874873.1
Gene
RECQL
Gene Name
RecQ like helicase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002907.3 133 Intron NP_002898.2
NM_032941.2 133 Intron NP_116559.1
XM_005253461.3 133 Intron XP_005253518.1
XM_005253462.4 133 Intron XP_005253519.1
XM_005253463.3 133 Intron XP_005253520.1
XM_005253464.3 133 Intron XP_005253521.1

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