Product Details

SNP ID

rs180977020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:31083256 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAACCGACGGAGCTAGGGGCCAGC[A/G]AGATGGCGGACGAGGCCTTAGCTGG

Phenotype

MIM: 602127

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SMTN PubMed Links

Gene Details

Gene

SMTN

Gene Name

smoothelin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001207017.1	323	Missense Mutation	AAG,GAG	K54E	NP_001193946.1
NM_001207018.1	323	Intron			NP_001193947.1
NM_006932.4	323	UTR 5			NP_008863.3
NM_134269.2	323	UTR 5			NP_599031.1
NM_134270.2	323	UTR 5			NP_599032.2
XM_006724298.1	323	UTR 5			XP_006724361.1
XM_006724302.1	323	UTR 5			XP_006724365.1
XM_011530333.2	323	Missense Mutation	AAG,GAG	K54E	XP_011528635.1
XM_011530336.2	323	Missense Mutation	AAG,GAG	K54E	XP_011528638.1
XM_011530337.2	323	Missense Mutation	AAG,GAG	K54E	XP_011528639.1
XM_011530338.2	323	Missense Mutation	AAG,GAG	K54E	XP_011528640.1
XM_011530339.2	323	Missense Mutation	AAG,GAG	K54E	XP_011528641.1
XM_011530340.2	323	Missense Mutation	AAG,GAG	K54E	XP_011528642.1
XM_011530341.1	323	Intron			XP_011528643.1
XM_017028913.1	323	Missense Mutation	AAG,GAG	K54E	XP_016884402.1
XM_017028914.1	323	Missense Mutation	AAG,GAG	K54E	XP_016884403.1
XM_017028915.1	323	Missense Mutation	AAG,GAG	K54E	XP_016884404.1
XM_017028916.1	323	Missense Mutation	AAG,GAG	K54E	XP_016884405.1
XM_017028917.1	323	Missense Mutation	AAG,GAG	K54E	XP_016884406.1
XM_017028918.1	323	Missense Mutation	AAG,GAG	K54E	XP_016884407.1
XM_017028919.1	323	Missense Mutation	AAG,GAG	K54E	XP_016884408.1

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