Product Details

SNP ID

rs12624640

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:34364319 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATTCTTCCACAGCTACAGTATACTT[A/G]GTTTGGAGTGGGGGATGGGGAATTG

Phenotype

MIM: 606409

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ITCH PubMed Links

Gene Details

Gene

ITCH

Gene Name

itchy E3 ubiquitin protein ligase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257137.2		Intron			NP_001244066.1
NM_001257138.2		Intron			NP_001244067.1
NM_001324197.1		Intron			NP_001311126.1
NM_001324198.1		Intron			NP_001311127.1
NM_031483.6		Intron			NP_113671.3
XM_005260570.1		Intron			XP_005260627.1
XM_011529079.1		Intron			XP_011527381.1
XM_017028089.1		Intron			XP_016883578.1
XM_017028090.1		Intron			XP_016883579.1
XM_017028091.1		Intron			XP_016883580.1
XM_017028092.1		Intron			XP_016883581.1

Gene

LOC107985381

Gene Name

uncharacterized LOC107985381

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_017028185.1		Intron			XP_016883674.1

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