Product Details

SNP ID

rs149266206

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1348119 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATCAGAAACTTTCGAAGTTGGTA[A/G]AAGAGCTCACAACTTCAGGAGAACC

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	798	Missense Mutation	AAA,GAA	K10E	NP_001304863.1
NM_001317935.1	798	Missense Mutation	AAA,GAA	K10E	NP_001304864.1
NM_020894.3	798	Missense Mutation	AAA,GAA	K10E	NP_065945.2
XM_017008490.1	798	Missense Mutation	AAA,GAA	K10E	XP_016863979.1
XM_017008491.1	798	Missense Mutation	AAA,GAA	K10E	XP_016863980.1
XM_017008492.1	798	Missense Mutation	AAA,GAA	K10E	XP_016863981.1
XM_017008493.1	798	Missense Mutation	AAA,GAA	K10E	XP_016863982.1
XM_017008494.1	798	Missense Mutation	AAA,GAA	K10E	XP_016863983.1
XM_017008495.1	798	Intron			XP_016863984.1
XM_017008496.1	798	Missense Mutation	AAA,GAA	K119E	XP_016863985.1
XM_017008497.1	798	Missense Mutation	AAA,GAA	K119E	XP_016863986.1
XM_017008498.1	798	Missense Mutation	AAA,GAA	K10E	XP_016863987.1
XM_017008499.1	798	Missense Mutation	AAA,GAA	K10E	XP_016863988.1
XM_017008500.1	798	Intron			XP_016863989.1

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