Product Details

SNP ID

rs145429810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:129864993 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTGGCCTGACCTTGCTGCTGAAG[C/G]TGCTGCAACTGCTGAGCAGTGAGGA

Phenotype

MIM: 164013

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NFRKB PubMed Links

Gene Details

Gene

NFRKB

Gene Name

nuclear factor related to kappaB binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143835.1	3859	Missense Mutation	CAC,CAG	H1249Q	NP_001137307.1
NM_006165.3	3859	Missense Mutation	CAC,CAG	H1274Q	NP_006156.2
XM_005271567.3	3859	Missense Mutation	CAC,CAG	H1261Q	XP_005271624.1
XM_005271568.3	3859	Missense Mutation	CAC,CAG	H1261Q	XP_005271625.1
XM_011542850.2	3859	Missense Mutation	CAC,CAG	H1284Q	XP_011541152.1
XM_011542851.2	3859	Missense Mutation	CAC,CAG	H1274Q	XP_011541153.1
XM_011542852.2	3859	Missense Mutation	CAC,CAG	H1274Q	XP_011541154.1
XM_017017793.1	3859	Missense Mutation	CAC,CAG	H1291Q	XP_016873282.1
XM_017017794.1	3859	Missense Mutation	CAC,CAG	H1279Q	XP_016873283.1
XM_017017795.1	3859	Missense Mutation	CAC,CAG	H1272Q	XP_016873284.1
XM_017017796.1	3859	Missense Mutation	CAC,CAG	H1249Q	XP_016873285.1
XM_017017797.1	3859	Missense Mutation	CAC,CAG	H1202Q	XP_016873286.1
XM_017017798.1	3859	Missense Mutation	CAC,CAG	H1160Q	XP_016873287.1
XM_017017799.1	3859	Missense Mutation	CAC,CAG	H1006Q	XP_016873288.1
XM_017017800.1	3859	Missense Mutation	CAC,CAG	H1006Q	XP_016873289.1
XM_017017801.1	3859	Missense Mutation	CAC,CAG	H710Q	XP_016873290.1

Gene

TMEM45B

Gene Name

transmembrane protein 45B

There are no transcripts associated with this gene.

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