Product Details

SNP ID

rs200475962

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:129865028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGAGCAGTGAGGAAACTAACAG[A/G]CTTATTGCCAGCAATGAGCTTAGTG

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	3824	Missense Mutation	CCT,TCT	P1238S	NP_001137307.1
NM_006165.3	3824	Missense Mutation	CCT,TCT	P1263S	NP_006156.2
XM_005271567.3	3824	Missense Mutation	CCT,TCT	P1250S	XP_005271624.1
XM_005271568.3	3824	Missense Mutation	CCT,TCT	P1250S	XP_005271625.1
XM_011542850.2	3824	Missense Mutation	CCT,TCT	P1273S	XP_011541152.1
XM_011542851.2	3824	Missense Mutation	CCT,TCT	P1263S	XP_011541153.1
XM_011542852.2	3824	Missense Mutation	CCT,TCT	P1263S	XP_011541154.1
XM_017017793.1	3824	Missense Mutation	CCT,TCT	P1280S	XP_016873282.1
XM_017017794.1	3824	Missense Mutation	CCT,TCT	P1268S	XP_016873283.1
XM_017017795.1	3824	Missense Mutation	CCT,TCT	P1261S	XP_016873284.1
XM_017017796.1	3824	Missense Mutation	CCT,TCT	P1238S	XP_016873285.1
XM_017017797.1	3824	Missense Mutation	CCT,TCT	P1191S	XP_016873286.1
XM_017017798.1	3824	Missense Mutation	CCT,TCT	P1149S	XP_016873287.1
XM_017017799.1	3824	Missense Mutation	CCT,TCT	P995S	XP_016873288.1
XM_017017800.1	3824	Missense Mutation	CCT,TCT	P995S	XP_016873289.1
XM_017017801.1	3824	Missense Mutation	CCT,TCT	P699S	XP_016873290.1

Gene

TMEM45B

Gene Name

transmembrane protein 45B

There are no transcripts associated with this gene.

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