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SNP ID

rs144370117

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:119590892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAAGGTTCTTCCAGATTGTCGCC[A/G]TTAATTTTTCAATAAAATACTGCTT

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	1332	Missense Mutation	ACG,ATG	T193M	NP_001166958.1
NM_001173488.1	1332	Missense Mutation	ACG,ATG	T178M	NP_001166959.1
NM_017544.3	1332	Missense Mutation	ACG,ATG	T178M	NP_060014.2
XM_011531365.2	1332	Missense Mutation	ACG,ATG	T178M	XP_011529667.1

Gene

UBE2A

Gene Name

ubiquitin conjugating enzyme E2 A

There are no transcripts associated with this gene.

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