Product Details

SNP ID

rs139247697

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7101617 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCATTCCGCCTTTTCTCACACAC[C/T]CAGCGGTACACCTGCAGGCAGAAGT

Phenotype

MIM: 108361

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ASGR2 PubMed Links

Gene Details

Gene

ASGR2

Gene Name

asialoglycoprotein receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001181.4	1121	Nonsense Mutation	TGA,TGG	*298W	NP_001172.1
NM_001201352.1	1121	Nonsense Mutation	TGA,TGG	*293W	NP_001188281.1
NM_080912.3	1121	Nonsense Mutation	TGA,TGG	*298W	NP_550434.1
NM_080913.3	1121	Nonsense Mutation	TGA,TGG	*274W	NP_550435.1
NM_080914.2	1121	Nonsense Mutation	TGA,TGG	*279W	NP_550436.1
XM_005256648.2	1121	Nonsense Mutation	TGA,TGG	*274W	XP_005256705.1
XM_006721524.2	1121	Nonsense Mutation	TGA,TGG	*235W	XP_006721587.2
XM_006721526.1	1121	Nonsense Mutation	TGA,TGG	*274W	XP_006721589.1
XM_011523862.2	1121	Nonsense Mutation	TGA,TGG	*397W	XP_011522164.2
XM_011523863.2	1121	Nonsense Mutation	TGA,TGG	*286W	XP_011522165.1
XM_011523864.2	1121	Nonsense Mutation	TGA,TGG	*305W	XP_011522166.1
XM_011523865.1	1121	Nonsense Mutation	TGA,TGG	*286W	XP_011522167.1
XM_011523866.1	1121	Nonsense Mutation	TGA,TGG	*286W	XP_011522168.1
XM_017024651.1	1121	Nonsense Mutation	TGA,TGG	*279W	XP_016880140.1
XM_017024652.1	1121	Nonsense Mutation	TGA,TGG	*298W	XP_016880141.1
XM_017024653.1	1121	Nonsense Mutation	TGA,TGG	*298W	XP_016880142.1

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