Product Details

SNP ID

rs186465465

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:33436906 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAAAGGATGACGTCTGGGACTCT[C/G]TGTCCATTATCTCGTTTCCGGAAAA

Phenotype

MIM: 147569

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

IFNGR2 PubMed Links

Gene Details

Gene

IFNGR2

Gene Name

interferon gamma receptor 2 (interferon gamma transducer 1)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005534.3	1606	Missense Mutation	CTG,GTG	L320V	NP_005525.2
XM_005260969.2	1606	Missense Mutation	CTG,GTG	L339V	XP_005261026.1
XM_011529553.1	1606	Missense Mutation	CTG,GTG	L345V	XP_011527855.1
XM_011529554.2	1606	Missense Mutation	CTG,GTG	L322V	XP_011527856.1

Gene

TMEM50B

Gene Name

transmembrane protein 50B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006134.6	1606	Intron			NP_006125.2
XM_011529746.1	1606	UTR 3			XP_011528048.1

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