Product Details

SNP ID

rs149473563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:78600249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTGATGACATTGAGCTTGAGGAA[C/T]TGGGATCTCTGGGATTATTTGATGT

Phenotype

MIM: 602430

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ROBO1 PubMed Links

Gene Details

Gene

ROBO1

Gene Name

roundabout guidance receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145845.1	4964	Missense Mutation	AAT,AGT	N1502S	NP_001139317.1
NM_002941.3	4964	Missense Mutation	AAT,AGT	N1602S	NP_002932.1
NM_133631.3	4964	Missense Mutation	AAT,AGT	N1557S	NP_598334.2
XM_006713277.2	4964	Missense Mutation	AAT,AGT	N1566S	XP_006713340.1
XM_011533976.1	4964	Missense Mutation	AAT,AGT	N1605S	XP_011532278.1
XM_011533977.2	4964	Missense Mutation	AAT,AGT	N1605S	XP_011532279.1
XM_011533978.1	4964	Missense Mutation	AAT,AGT	N1596S	XP_011532280.1
XM_011533979.1	4964	Missense Mutation	AAT,AGT	N1550S	XP_011532281.1
XM_011533980.1	4964	Missense Mutation	AAT,AGT	N1541S	XP_011532282.1
XM_017006982.1	4964	Missense Mutation	AAT,AGT	N1577S	XP_016862471.1
XM_017006983.1	4964	Missense Mutation	AAT,AGT	N1563S	XP_016862472.1
XM_017006984.1	4964	Missense Mutation	AAT,AGT	N1547S	XP_016862473.1
XM_017006985.1	4964	Missense Mutation	AAT,AGT	N1486S	XP_016862474.1

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