Product Details

SNP ID
rs140162022
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:1349582 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCTGATAGCACAGCTGACCCAG[C/G]AGCACGCCGAGATCCGTCTCTCAGC
Phenotype
MIM: 606801 MIM: 614632
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
MAEA PubMed Links

Gene Details

Gene
MAEA
Gene Name
macrophage erythroblast attacher
There are no transcripts associated with this gene.

Gene
UVSSA
Gene Name
UV stimulated scaffold protein A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317934.1 927 Missense Mutation CAG,GAG Q53E NP_001304863.1
NM_001317935.1 927 Missense Mutation CAG,GAG Q53E NP_001304864.1
NM_020894.3 927 Missense Mutation CAG,GAG Q53E NP_065945.2
XM_017008490.1 927 Missense Mutation CAG,GAG Q53E XP_016863979.1
XM_017008491.1 927 Missense Mutation CAG,GAG Q53E XP_016863980.1
XM_017008492.1 927 Missense Mutation CAG,GAG Q53E XP_016863981.1
XM_017008493.1 927 Missense Mutation CAG,GAG Q53E XP_016863982.1
XM_017008494.1 927 Missense Mutation CAG,GAG Q53E XP_016863983.1
XM_017008495.1 927 Intron XP_016863984.1
XM_017008496.1 927 Missense Mutation CAG,GAG Q162E XP_016863985.1
XM_017008497.1 927 Missense Mutation CAG,GAG Q162E XP_016863986.1
XM_017008498.1 927 Missense Mutation CAG,GAG Q53E XP_016863987.1
XM_017008499.1 927 Missense Mutation CAG,GAG Q53E XP_016863988.1
XM_017008500.1 927 Intron XP_016863989.1

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