Product Details

SNP ID

rs74448347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48935011 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTATATTCCATCATCTCACTAC[C/T]ACCTCCTTCCCCAGCCTTTCTAGGC

Phenotype

MIM: 610904 MIM: 611362

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SNF8 PubMed Links

Gene Details

Gene

SNF8

Gene Name

SNF8, ESCRT-II complex subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317192.1		Intron			NP_001304121.1
NM_001317193.1		Intron			NP_001304122.1
NM_001317194.1		Intron			NP_001304123.1
NM_007241.3		Intron			NP_009172.2
XM_017024075.1		Intron			XP_016879564.1

Gene

UBE2Z

Gene Name

ubiquitin conjugating enzyme E2 Z

There are no transcripts associated with this gene.

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