Product Details

SNP ID
rs147024709
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:47198842 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGTCCAAGAAACGTCGCGTGTCC[A/G]GGCCTGATCCAAAGCCGGGTTCTAA
Phenotype
MIM: 300164 MIM: 314370
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
INE1 PubMed Links

Gene Details

Gene
INE1
Gene Name
inactivation escape 1 (non-protein coding)
There are no transcripts associated with this gene.

Gene
UBA1
Gene Name
ubiquitin like modifier activating enzyme 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003334.3 148 Missense Mutation AGG,GGG R14G NP_003325.2
NM_153280.2 148 Missense Mutation AGG,GGG R14G NP_695012.1
XM_005272649.1 148 Missense Mutation AGG,GGG R20G XP_005272706.1
XM_011543954.2 148 Missense Mutation AGG,GGG R28G XP_011542256.1
XM_017029777.1 148 Missense Mutation AGG,GGG R65G XP_016885266.1
XM_017029778.1 148 Missense Mutation AGG,GGG R42G XP_016885267.1
XM_017029779.1 148 Missense Mutation AGG,GGG R20G XP_016885268.1
XM_017029780.1 148 Missense Mutation AGG,GGG R14G XP_016885269.1
XM_017029781.1 148 Missense Mutation AGG,GGG R14G XP_016885270.1

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