Product Details

SNP ID

rs117074548

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42200957 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTGGCACTGTAAGCTCTCAGTTA[C/T]GTGGCCCTCTTTTCTCTCCTCTATT

Phenotype

MIM: 608587 MIM: 604260

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GHDC PubMed Links

Gene Details

Gene

GHDC

Gene Name

GH3 domain containing

There are no transcripts associated with this gene.

Gene

STAT5B

Gene Name

signal transducer and activator of transcription 5B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012448.3	3133	UTR 3			NP_036580.2
XM_005257626.4	3133	Intron			XP_005257683.1
XM_017024977.1	3133	UTR 3			XP_016880466.1

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