Product Details

SNP ID

rs2233498

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:119590450 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAAGCATTAAAAATTGGCTGCCC[A/G]GAAGCATCTTTACCCAGCACCACCA

Phenotype

MIM: 300440 MIM: 312180

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NKRF PubMed Links

Gene Details

Gene

NKRF

Gene Name

NFKB repressing factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173487.1	1774	Silent Mutation	TCC,TCT	S340S	NP_001166958.1
NM_001173488.1	1774	Silent Mutation	TCC,TCT	S325S	NP_001166959.1
NM_017544.3	1774	Silent Mutation	TCC,TCT	S325S	NP_060014.2
XM_011531365.2	1774	Silent Mutation	TCC,TCT	S325S	XP_011529667.1

Gene

UBE2A

Gene Name

ubiquitin conjugating enzyme E2 A

There are no transcripts associated with this gene.

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