Product Details

SNP ID: rs146995389
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.22:30555620 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATTGAAGCCGTTGGGGTCGTAGTAG[C/T]GATCCGGGTCTTGCAGGAACTCGGT
Phenotype: MIM: 602300
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: GAL3ST1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318103.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305032.1
NM_001318104.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305033.1
NM_001318105.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305034.1
NM_001318106.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305035.1
NM_001318107.1	779	Missense Mutation	CAC,CGC	H203R	NP_001305036.1
NM_001318108.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305037.1
NM_001318109.1	779	Missense Mutation	CAC,CGC	H227R	NP_001305038.1
NM_001318110.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305039.1
NM_001318111.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305040.1
NM_001318112.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305041.1
NM_001318113.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305042.1
NM_001318114.1	779	Missense Mutation	CAC,CGC	H203R	NP_001305043.1
NM_001318115.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305044.1
NM_001318116.1	779	Missense Mutation	CAC,CGC	H202R	NP_001305045.1
NM_004861.2	779	Missense Mutation	CAC,CGC	H202R	NP_004852.1
XM_011530518.2	779	Missense Mutation	CAC,CGC	H229R	XP_011528820.1
XM_011530522.2	779	Missense Mutation	CAC,CGC	H203R	XP_011528824.1
XM_011530524.1	779	Missense Mutation	CAC,CGC	H203R	XP_011528826.1
XM_011530528.1	779	Missense Mutation	CAC,CGC	H203R	XP_011528830.1
XM_017029096.1	779	Missense Mutation	CAC,CGC	H203R	XP_016884585.1
XM_017029097.1	779	Missense Mutation	CAC,CGC	H203R	XP_016884586.1
XM_017029098.1	779	Missense Mutation	CAC,CGC	H202R	XP_016884587.1

There are no transcripts associated with this gene.