Product Details

SNP ID

rs2303983

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:122911499 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTCCGGTTTCTTTTACCTGCACAG[C/T]CGGTGGCCTCCTCCATGCTGGAGGC

Phenotype

MIM: 609298

Polymorphism

C/T, 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	3520	Missense Mutation	GAC,GGC	D1028G	NP_001026872.2
NM_001256346.1	3520	Missense Mutation	GAC,GGC	D1028G	NP_001243275.1
NM_001256347.1	3520	Missense Mutation	GAC,GGC	D1082G	NP_001243276.1
NM_001256348.1	3520	Missense Mutation	GAC,GGC	D934G	NP_001243277.1
XM_017006638.1	3520	Missense Mutation	GAC,GGC	D994G	XP_016862127.1
XM_017006639.1	3520	Intron			XP_016862128.1

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