Product Details

SNP ID

rs77221874

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:121669210 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTCTCTCACCTTCTCTTTACTC[A/C]CCGCCTGCAGCTCTTGAACCTGCTT

Phenotype

MIM: 602500 MIM: 601306

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GOLGB1 PubMed Links

Gene Details

Gene

GOLGB1

Gene Name

golgin B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256486.1	9798	Missense Mutation	GGG,GTG	G3108V	NP_001243415.1
NM_001256487.1	9798	Intron			NP_001243416.1
NM_001256488.1	9798	Intron			NP_001243417.1
NM_004487.4	9798	Intron			NP_004478.3
XM_005247371.4	9798	Missense Mutation	GGG,GTG	G3108V	XP_005247428.1
XM_005247372.4	9798	Missense Mutation	GGG,GTG	G3069V	XP_005247429.1
XM_005247373.1	9798	Missense Mutation	GGG,GTG	G3067V	XP_005247430.1
XM_006713587.1	9798	Intron			XP_006713650.1
XM_006713588.1	9798	Missense Mutation	GGG,GTG	G3103V	XP_006713651.1
XM_006713589.1	9798	Missense Mutation	GGG,GTG	G3102V	XP_006713652.1
XM_006713590.1	9798	Intron			XP_006713653.1
XM_006713591.1	9798	Missense Mutation	GGG,GTG	G3028V	XP_006713654.1
XM_011512699.2	9798	Missense Mutation	GGG,GTG	G3108V	XP_011511001.1
XM_017006189.1	9798	Missense Mutation	GGG,GTG	G3103V	XP_016861678.1
XM_017006190.1	9798	Missense Mutation	GGG,GTG	G3102V	XP_016861679.1
XM_017006191.1	9798	Missense Mutation	GGG,GTG	G3067V	XP_016861680.1
XM_017006192.1	9798	Missense Mutation	GGG,GTG	G3064V	XP_016861681.1
XM_017006193.1	9798	Missense Mutation	GGG,GTG	G3063V	XP_016861682.1
XM_017006194.1	9798	Missense Mutation	GGG,GTG	G3028V	XP_016861683.1
XM_017006195.1	9798	Missense Mutation	GGG,GTG	G2855V	XP_016861684.1

Gene

HCLS1

Gene Name

hematopoietic cell-specific Lyn substrate 1

There are no transcripts associated with this gene.

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