Product Details

SNP ID

rs148264367

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:129864738 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTCTCATAATCATTGTTGCTCA[A/G]GTGCCTGTTTAGGAGACGGAGCTGT

Phenotype

MIM: 164013

Polymorphism

A/G, Transition 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	3999	Missense Mutation	CCT,CTT	P1296L	NP_001137307.1
NM_006165.3	3999	Missense Mutation	CCT,CTT	P1321L	NP_006156.2
XM_005271567.3	3999	Missense Mutation	CCT,CTT	P1308L	XP_005271624.1
XM_005271568.3	3999	Missense Mutation	CCT,CTT	P1308L	XP_005271625.1
XM_011542850.2	3999	Missense Mutation	CCT,CTT	P1331L	XP_011541152.1
XM_011542851.2	3999	Missense Mutation	CCT,CTT	P1321L	XP_011541153.1
XM_011542852.2	3999	Missense Mutation	CCT,CTT	P1321L	XP_011541154.1
XM_017017793.1	3999	Missense Mutation	CCT,CTT	P1338L	XP_016873282.1
XM_017017794.1	3999	Missense Mutation	CCT,CTT	P1326L	XP_016873283.1
XM_017017795.1	3999	Missense Mutation	CCT,CTT	P1319L	XP_016873284.1
XM_017017796.1	3999	Missense Mutation	CCT,CTT	P1296L	XP_016873285.1
XM_017017797.1	3999	Missense Mutation	CCT,CTT	P1249L	XP_016873286.1
XM_017017798.1	3999	Missense Mutation	CCT,CTT	P1207L	XP_016873287.1
XM_017017799.1	3999	Missense Mutation	CCT,CTT	P1053L	XP_016873288.1
XM_017017800.1	3999	Missense Mutation	CCT,CTT	P1053L	XP_016873289.1
XM_017017801.1	3999	Missense Mutation	CCT,CTT	P757L	XP_016873290.1

Gene

TMEM45B

Gene Name

transmembrane protein 45B

There are no transcripts associated with this gene.

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