Product Details

SNP ID

rs77000186

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:57543741 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGAGAGCCCCACTGGGGAGGGG[C/T]ACAACCTCAGCACAGGTGAGTGAGA

Phenotype

MIM: 613664 MIM: 603890

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SMTNL1 PubMed Links

Gene Details

Gene

SMTNL1

Gene Name

smoothelin like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105565.2	852	Missense Mutation	CAC,TAC	H284Y	NP_001099035.2
XM_005273819.3	852	Missense Mutation	CAC,TAC	H284Y	XP_005273876.1

Gene

UBE2L6

Gene Name

ubiquitin conjugating enzyme E2 L6

There are no transcripts associated with this gene.

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