Product Details

SNP ID

rs116804738

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1348147 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTCACAACTTCAGGAGAACCCC[A/G]ACTAAATCCTGAGAAAATGAAGGAA

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	826	Missense Mutation	CAA,CGA	Q19R	NP_001304863.1
NM_001317935.1	826	Missense Mutation	CAA,CGA	Q19R	NP_001304864.1
NM_020894.3	826	Missense Mutation	CAA,CGA	Q19R	NP_065945.2
XM_017008490.1	826	Missense Mutation	CAA,CGA	Q19R	XP_016863979.1
XM_017008491.1	826	Missense Mutation	CAA,CGA	Q19R	XP_016863980.1
XM_017008492.1	826	Missense Mutation	CAA,CGA	Q19R	XP_016863981.1
XM_017008493.1	826	Missense Mutation	CAA,CGA	Q19R	XP_016863982.1
XM_017008494.1	826	Missense Mutation	CAA,CGA	Q19R	XP_016863983.1
XM_017008495.1	826	Intron			XP_016863984.1
XM_017008496.1	826	Missense Mutation	CAA,CGA	Q128R	XP_016863985.1
XM_017008497.1	826	Missense Mutation	CAA,CGA	Q128R	XP_016863986.1
XM_017008498.1	826	Missense Mutation	CAA,CGA	Q19R	XP_016863987.1
XM_017008499.1	826	Missense Mutation	CAA,CGA	Q19R	XP_016863988.1
XM_017008500.1	826	Intron			XP_016863989.1

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