Product Details

SNP ID

rs144988532

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1349526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAGGCCAGCTCGCATCCCCAGGT[C/T]TTCAGAGGAGCAGCTGAGCCGCGCC

Phenotype

MIM: 606801 MIM: 614632

Polymorphism

C/T, 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	871	Missense Mutation	TCT,TTT	S34F	NP_001304863.1
NM_001317935.1	871	Missense Mutation	TCT,TTT	S34F	NP_001304864.1
NM_020894.3	871	Missense Mutation	TCT,TTT	S34F	NP_065945.2
XM_017008490.1	871	Missense Mutation	TCT,TTT	S34F	XP_016863979.1
XM_017008491.1	871	Missense Mutation	TCT,TTT	S34F	XP_016863980.1
XM_017008492.1	871	Missense Mutation	TCT,TTT	S34F	XP_016863981.1
XM_017008493.1	871	Missense Mutation	TCT,TTT	S34F	XP_016863982.1
XM_017008494.1	871	Missense Mutation	TCT,TTT	S34F	XP_016863983.1
XM_017008495.1	871	Intron			XP_016863984.1
XM_017008496.1	871	Missense Mutation	TCT,TTT	S143F	XP_016863985.1
XM_017008497.1	871	Missense Mutation	TCT,TTT	S143F	XP_016863986.1
XM_017008498.1	871	Missense Mutation	TCT,TTT	S34F	XP_016863987.1
XM_017008499.1	871	Missense Mutation	TCT,TTT	S34F	XP_016863988.1
XM_017008500.1	871	Intron			XP_016863989.1

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