Product Details

SNP ID

rs11556566

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57694868 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGAGGAGGAAACACCTGCTTACC[A/G]AGGGCCTGGGATCCCTGAGTTGTTG

Phenotype

MIM: 609677

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

OS9 PubMed Links

Gene Details

Gene

OS9

Gene Name

OS9, endoplasmic reticulum lectin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017956.2	420	Missense Mutation	CAA,CGA	Q94R	NP_001017956.1
NM_001017957.2	420	Missense Mutation	CAA,CGA	Q94R	NP_001017957.1
NM_001017958.2	420	Missense Mutation	CAA,CGA	Q94R	NP_001017958.1
NM_001261420.1	420	Missense Mutation	CAA,CGA	Q94R	NP_001248349.1
NM_001261421.1	420	Missense Mutation	CAA,CGA	Q94R	NP_001248350.1
NM_001261422.1	420	Missense Mutation	CAA,CGA	Q94R	NP_001248351.1
NM_001261423.1	420	Intron			NP_001248352.1
NM_006812.3	420	Missense Mutation	CAA,CGA	Q94R	NP_006803.1
XM_005268581.1	420	Missense Mutation	CAA,CGA	Q94R	XP_005268638.1
XM_006719200.1	420	Missense Mutation	CAA,CGA	Q94R	XP_006719263.1
XM_006719201.1	420	Missense Mutation	CAA,CGA	Q94R	XP_006719264.1

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