Product Details

SNP ID

rs200262507

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1349637 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGATTGTGGAGGAACTCTTCGTCA[A/G]GTCTCACCAGTTCCGGATGCTGGTT

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	982	Missense Mutation	AAG,AGG	K71R	NP_001304863.1
NM_001317935.1	982	Missense Mutation	AAG,AGG	K71R	NP_001304864.1
NM_020894.3	982	Missense Mutation	AAG,AGG	K71R	NP_065945.2
XM_017008490.1	982	Missense Mutation	AAG,AGG	K71R	XP_016863979.1
XM_017008491.1	982	Missense Mutation	AAG,AGG	K71R	XP_016863980.1
XM_017008492.1	982	Missense Mutation	AAG,AGG	K71R	XP_016863981.1
XM_017008493.1	982	Missense Mutation	AAG,AGG	K71R	XP_016863982.1
XM_017008494.1	982	Missense Mutation	AAG,AGG	K71R	XP_016863983.1
XM_017008495.1	982	Intron			XP_016863984.1
XM_017008496.1	982	Missense Mutation	AAG,AGG	K180R	XP_016863985.1
XM_017008497.1	982	Missense Mutation	AAG,AGG	K180R	XP_016863986.1
XM_017008498.1	982	Missense Mutation	AAG,AGG	K71R	XP_016863987.1
XM_017008499.1	982	Missense Mutation	AAG,AGG	K71R	XP_016863988.1
XM_017008500.1	982	Intron			XP_016863989.1

View Full Product Details