Product Details

SNP ID

rs145590794

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:18060064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGATGCCTCTTCCTGGAAGTCCA[A/C]TGGGTTGATCCACTGCCAAGTCTGC

Phenotype

MIM: 601604

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

IL12RB1 PubMed Links

Gene Details

Gene

IL12RB1

Gene Name

interleukin 12 receptor subunit beta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290023.1	2228	Missense Mutation	GTG,TTG	V605L	NP_001276952.1
NM_001290024.1	2228	Missense Mutation	GTG,TTG	V645L	NP_001276953.1
NM_005535.2	2228	Missense Mutation	GTG,TTG	V605L	NP_005526.1
NM_153701.2	2228	Intron			NP_714912.1
XM_006722741.3	2228	Missense Mutation	GTG,TTG	V645L	XP_006722804.2
XM_011527966.2	2228	Missense Mutation	GTG,TTG	V656L	XP_011526268.1
XM_011527967.2	2228	Missense Mutation	GTG,TTG	V652L	XP_011526269.1
XM_011527968.2	2228	Missense Mutation	GTG,TTG	V649L	XP_011526270.1
XM_011527969.2	2228	Missense Mutation	GTG,TTG	V645L	XP_011526271.1
XM_011527970.2	2228	Missense Mutation	GTG,TTG	V656L	XP_011526272.1
XM_011527971.2	2228	Missense Mutation	GTG,TTG	V656L	XP_011526273.1
XM_011527972.2	2228	Missense Mutation	GTG,TTG	V656L	XP_011526274.1
XM_011527973.2	2228	Missense Mutation	GTG,TTG	V616L	XP_011526275.1
XM_011527974.2	2228	Missense Mutation	GTG,TTG	V612L	XP_011526276.1
XM_011527975.2	2228	Missense Mutation	GTG,TTG	V645L	XP_011526277.1
XM_011527976.2	2228	Intron			XP_011526278.1
XM_011527977.2	2228	Intron			XP_011526279.1
XM_017026762.1	2228	Missense Mutation	GTG,TTG	V411L	XP_016882251.1

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