Product Details

SNP ID

rs72551377

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.3:121894526 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TCCAAGGAAACTCTTTTTTCACCTG[G/T]CTCCATTGAAGAGGTACCACCTCGA

Phenotype

MIM: 607659 MIM: 602339

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EAF2 PubMed Links

Gene Details

Gene

EAF2

Gene Name

ELL associated factor 2

There are no transcripts associated with this gene.

Gene

SLC15A2

Gene Name

solute carrier family 15 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145998.1	203	Missense Mutation	GGC,GTC	G17V	NP_001139470.1
NM_021082.3	203	Missense Mutation	GGC,GTC	G17V	NP_066568.3
XM_005247722.3	203	Missense Mutation	GGC,GTC	G17V	XP_005247779.1
XM_006713736.3	203	Missense Mutation	GGC,GTC	G17V	XP_006713799.1
XM_017007074.1	203	Missense Mutation	GGC,GTC	G17V	XP_016862563.1

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