Product Details

SNP ID

rs11046087

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:21502095 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGCTAGGGCTGCTGGGACCCTAAG[G/T]GGCTGCCTTCGGGATGCCGGGGCTA

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		Intron			NP_057156.1
XM_017019384.1		Intron			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		Intron			NP_002898.2
NM_032941.2		Intron			NP_116559.1
XM_005253461.3		Intron			XP_005253518.1
XM_005253462.4		Intron			XP_005253519.1
XM_005253463.3		Intron			XP_005253520.1
XM_005253464.3		Intron			XP_005253521.1

View Full Product Details