Product Details

SNP ID

rs200333924

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42202802 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGGCTTCACGTATCCATCAACA[A/G]CTTTAGCTGCCAAGGGAAGAATGTA

Phenotype

MIM: 608587 MIM: 604260

Polymorphism

A/G, 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	2072	Missense Mutation	GCT,GTT	A695V	NP_036580.2
XM_005257626.4	2072	Intron			XP_005257683.1
XM_017024977.1	2072	Missense Mutation	GCT,GTT	A601V	XP_016880466.1

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