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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