Product Details

SNP ID

rs151085866

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1349633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCAGATTGTGGAGGAACTCTTC[G/T]TCAGGTCTCACCAGTTCCGGATGCT

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	978	Missense Mutation	GTC,TTC	V70F	NP_001304863.1
NM_001317935.1	978	Missense Mutation	GTC,TTC	V70F	NP_001304864.1
NM_020894.3	978	Missense Mutation	GTC,TTC	V70F	NP_065945.2
XM_017008490.1	978	Missense Mutation	GTC,TTC	V70F	XP_016863979.1
XM_017008491.1	978	Missense Mutation	GTC,TTC	V70F	XP_016863980.1
XM_017008492.1	978	Missense Mutation	GTC,TTC	V70F	XP_016863981.1
XM_017008493.1	978	Missense Mutation	GTC,TTC	V70F	XP_016863982.1
XM_017008494.1	978	Missense Mutation	GTC,TTC	V70F	XP_016863983.1
XM_017008495.1	978	Intron			XP_016863984.1
XM_017008496.1	978	Missense Mutation	GTC,TTC	V179F	XP_016863985.1
XM_017008497.1	978	Missense Mutation	GTC,TTC	V179F	XP_016863986.1
XM_017008498.1	978	Missense Mutation	GTC,TTC	V70F	XP_016863987.1
XM_017008499.1	978	Missense Mutation	GTC,TTC	V70F	XP_016863988.1
XM_017008500.1	978	Intron			XP_016863989.1

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