Product Details

SNP ID

rs200842541

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1349588 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATAGCACAGCTGACCCAGGAGCAC[A/G]CCGAGATCCGTCTCTCAGCCTTCCA

Phenotype

MIM: 606801 MIM: 614632

Polymorphism

A/G, Transition 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	933	Missense Mutation	ACC,GCC	T55A	NP_001304863.1
NM_001317935.1	933	Missense Mutation	ACC,GCC	T55A	NP_001304864.1
NM_020894.3	933	Missense Mutation	ACC,GCC	T55A	NP_065945.2
XM_017008490.1	933	Missense Mutation	ACC,GCC	T55A	XP_016863979.1
XM_017008491.1	933	Missense Mutation	ACC,GCC	T55A	XP_016863980.1
XM_017008492.1	933	Missense Mutation	ACC,GCC	T55A	XP_016863981.1
XM_017008493.1	933	Missense Mutation	ACC,GCC	T55A	XP_016863982.1
XM_017008494.1	933	Missense Mutation	ACC,GCC	T55A	XP_016863983.1
XM_017008495.1	933	Intron			XP_016863984.1
XM_017008496.1	933	Missense Mutation	ACC,GCC	T164A	XP_016863985.1
XM_017008497.1	933	Missense Mutation	ACC,GCC	T164A	XP_016863986.1
XM_017008498.1	933	Missense Mutation	ACC,GCC	T55A	XP_016863987.1
XM_017008499.1	933	Missense Mutation	ACC,GCC	T55A	XP_016863988.1
XM_017008500.1	933	Intron			XP_016863989.1

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