Product Details

SNP ID

rs145516314

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63590138 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGGCAGCCACCTCAATGGTGGCC[A/G]TGTGCTCCTCAGGCCCGGGGGCAGC

Phenotype

MIM: 607451

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GMEB2 PubMed Links

Gene Details

Gene

GMEB2

Gene Name

glucocorticoid modulatory element binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012384.4	1399	Missense Mutation	ACG,ATG	T515M	NP_036516.1
XM_005260202.4	1399	Missense Mutation	ACG,ATG	T515M	XP_005260259.1
XM_006723776.2	1399	Missense Mutation	ACG,ATG	T437M	XP_006723839.1
XM_011528779.2	1399	Missense Mutation	ACG,ATG	T437M	XP_011527081.1

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