Product Details

SNP ID

rs200608307

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1349630 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCTTCCAGATTGTGGAGGAACTC[G/T]TCGTCAGGTCTCACCAGTTCCGGAT

Phenotype

MIM: 606801 MIM: 614632

Polymorphism

G/T, 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	975	Missense Mutation	GTC,TTC	V69F	NP_001304863.1
NM_001317935.1	975	Missense Mutation	GTC,TTC	V69F	NP_001304864.1
NM_020894.3	975	Missense Mutation	GTC,TTC	V69F	NP_065945.2
XM_017008490.1	975	Missense Mutation	GTC,TTC	V69F	XP_016863979.1
XM_017008491.1	975	Missense Mutation	GTC,TTC	V69F	XP_016863980.1
XM_017008492.1	975	Missense Mutation	GTC,TTC	V69F	XP_016863981.1
XM_017008493.1	975	Missense Mutation	GTC,TTC	V69F	XP_016863982.1
XM_017008494.1	975	Missense Mutation	GTC,TTC	V69F	XP_016863983.1
XM_017008495.1	975	Intron			XP_016863984.1
XM_017008496.1	975	Missense Mutation	GTC,TTC	V178F	XP_016863985.1
XM_017008497.1	975	Missense Mutation	GTC,TTC	V178F	XP_016863986.1
XM_017008498.1	975	Missense Mutation	GTC,TTC	V69F	XP_016863987.1
XM_017008499.1	975	Missense Mutation	GTC,TTC	V69F	XP_016863988.1
XM_017008500.1	975	Intron			XP_016863989.1

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