Product Details

SNP ID
rs184317651
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:122910916 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGTGCAAATGGTTGGGGGTGGCA[A/G]GATGGACCAGTGTGGACTCCTGGGA
Phenotype
MIM: 609298
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SEMA5B PubMed Links

Gene Details

Gene
SEMA5B
Gene Name
semaphorin 5B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031702.3 3658 Missense Mutation CCT,CTT P1074L NP_001026872.2
NM_001256346.1 3658 Missense Mutation CCT,CTT P1074L NP_001243275.1
NM_001256347.1 3658 Missense Mutation CCT,CTT P1128L NP_001243276.1
NM_001256348.1 3658 Missense Mutation CCT,CTT P980L NP_001243277.1
XM_017006638.1 3658 Missense Mutation CCT,CTT P1040L XP_016862127.1
XM_017006639.1 3658 Intron XP_016862128.1

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