Product Details

SNP ID

rs2270576

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48930601 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTCCAGCCACGCCAACCCTTCCTT[C/T]AGCAGGTGTTCCTGGAGGGAAAAGG

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	756	Silent Mutation	CTA,CTG	L216L	NP_001304121.1
NM_001317193.1	756	Silent Mutation	CTA,CTG	L200L	NP_001304122.1
NM_001317194.1	756	Silent Mutation	CTA,CTG	L113L	NP_001304123.1
NM_007241.3	756	Silent Mutation	CTA,CTG	L217L	NP_009172.2
XM_017024075.1	756	Silent Mutation	CTA,CTG	L113L	XP_016879564.1

Gene

UBE2Z

Gene Name

ubiquitin conjugating enzyme E2 Z

There are no transcripts associated with this gene.

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