Product Details

SNP ID

rs9621184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:31084083 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AATGAGGCATGGACCCAGATCTCAG[G/T]TGGAGGAAAGATGAGCCCACTCCAT

Phenotype

MIM: 602127

Polymorphism

G/T, Transversion 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		Intron			NP_001193946.1
NM_001207018.1		Intron			NP_001193947.1
NM_006932.4		Intron			NP_008863.3
NM_134269.2		Intron			NP_599031.1
NM_134270.2		Intron			NP_599032.2
XM_006724298.1		Intron			XP_006724361.1
XM_006724302.1		Intron			XP_006724365.1
XM_011530333.2		Intron			XP_011528635.1
XM_011530336.2		Intron			XP_011528638.1
XM_011530337.2		Intron			XP_011528639.1
XM_011530338.2		Intron			XP_011528640.1
XM_011530339.2		Intron			XP_011528641.1
XM_011530340.2		Intron			XP_011528642.1
XM_011530341.1		Intron			XP_011528643.1
XM_017028913.1		Intron			XP_016884402.1
XM_017028914.1		Intron			XP_016884403.1
XM_017028915.1		Intron			XP_016884404.1
XM_017028916.1		Intron			XP_016884405.1
XM_017028917.1		Intron			XP_016884406.1
XM_017028918.1		Intron			XP_016884407.1
XM_017028919.1		Intron			XP_016884408.1

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