Product Details

SNP ID

rs6436058

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218454934 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCCAACCCAGGAGTTTGTTCCTCAC[A/G]AGGCCTGACGGGTAGTCTTCCCCAC

Phenotype

MIM: 193040

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

USP37 PubMed Links

Gene Details

Gene

USP37

Gene Name

ubiquitin specific peptidase 37

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020935.2	3313	Missense Mutation	TCG,TTG	S979L	NP_065986.2
XM_005246720.2	3313	Missense Mutation	TCG,TTG	S979L	XP_005246777.1
XM_005246721.3	3313	Missense Mutation	TCG,TTG	S979L	XP_005246778.1
XM_005246722.3	3313	Missense Mutation	TCG,TTG	S979L	XP_005246779.1
XM_005246724.1	3313	Missense Mutation	TCG,TTG	S957L	XP_005246781.1
XM_011511538.2	3313	Missense Mutation	TCG,TTG	S979L	XP_011509840.1
XM_011511541.2	3313	Intron			XP_011509843.1
XM_017004577.1	3313	Missense Mutation	TCG,TTG	S731L	XP_016860066.1

Gene

VIL1

Gene Name

villin 1

There are no transcripts associated with this gene.

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