Product Details

SNP ID

rs147346988

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:99030593 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTTTGGTTGCTTTTCACTCCAC[A/C]GCAAACCCGCAGGTCTCCTCCACGG

Phenotype

MIM: 605568

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

LOC101927550 PubMed Links

Gene Details

Gene

LOC101927550

Gene Name

uncharacterized LOC101927550

There are no transcripts associated with this gene.

Gene

SMURF1

Gene Name

SMAD specific E3 ubiquitin protein ligase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199847.1	2518	Silent Mutation	GCG,GCT	A726A	NP_001186776.1
NM_020429.2	2518	Silent Mutation	GCG,GCT	A755A	NP_065162.1
NM_181349.2	2518	Silent Mutation	GCG,GCT	A729A	NP_851994.1
XM_017012457.1	2518	Silent Mutation	GCG,GCT	A752A	XP_016867946.1

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