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SNP ID

rs116536727

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:33432771 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGTGGGAACATTTTCGTTGCTGT[C/T]GGTGCTGGCAGGAGCCTGTTTCTTC

Phenotype

MIM: 147569

Polymorphism

C/T, Transition 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	1427	Missense Mutation	TCG,TTG	S260L	NP_005525.2
XM_005260969.2	1427	Missense Mutation	TCG,TTG	S279L	XP_005261026.1
XM_011529553.1	1427	Missense Mutation	TCG,TTG	S285L	XP_011527855.1
XM_011529554.2	1427	Missense Mutation	TCG,TTG	S262L	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	1427	Intron			NP_006125.2
XM_011529746.1	1427	UTR 3			XP_011528048.1

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