Product Details

SNP ID

rs149796000

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1349740 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCTCTGCCGCCCCCCAGGGAGGC[A/G]GCACAGAGGCTGAGGCAGGCGACCA

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	1085	Silent Mutation	GCA,GCG	A105A	NP_001304863.1
NM_001317935.1	1085	Silent Mutation	GCA,GCG	A105A	NP_001304864.1
NM_020894.3	1085	Silent Mutation	GCA,GCG	A105A	NP_065945.2
XM_017008490.1	1085	Silent Mutation	GCA,GCG	A105A	XP_016863979.1
XM_017008491.1	1085	Silent Mutation	GCA,GCG	A105A	XP_016863980.1
XM_017008492.1	1085	Silent Mutation	GCA,GCG	A105A	XP_016863981.1
XM_017008493.1	1085	Silent Mutation	GCA,GCG	A105A	XP_016863982.1
XM_017008494.1	1085	Silent Mutation	GCA,GCG	A105A	XP_016863983.1
XM_017008495.1	1085	Intron			XP_016863984.1
XM_017008496.1	1085	Silent Mutation	GCA,GCG	A214A	XP_016863985.1
XM_017008497.1	1085	Silent Mutation	GCA,GCG	A214A	XP_016863986.1
XM_017008498.1	1085	Silent Mutation	GCA,GCG	A105A	XP_016863987.1
XM_017008499.1	1085	Silent Mutation	GCA,GCG	A105A	XP_016863988.1
XM_017008500.1	1085	Intron			XP_016863989.1

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