Product Details

SNP ID

rs150811948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:131579633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGTTTATAATGTCGTCGTTCCTC[C/T]GCATGTCATAGTGCCTGGTGCAGGG

Phenotype

MIM: 600303

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RAPGEF1 PubMed Links

Gene Details

Gene

RAPGEF1

Gene Name

Rap guanine nucleotide exchange factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304275.1	3311	Missense Mutation	CAG,CGG	Q1050R	NP_001291204.1
NM_005312.3	3311	Missense Mutation	CAG,CGG	Q1033R	NP_005303.2
NM_198679.1	3311	Missense Mutation	CAG,CGG	Q1051R	NP_941372.1
XM_005272186.4	3311	Missense Mutation	CAG,CGG	Q1220R	XP_005272243.1
XM_005272191.3	3311	Missense Mutation	CAG,CGG	Q1182R	XP_005272248.1
XM_006717067.3	3311	Missense Mutation	CAG,CGG	Q1226R	XP_006717130.1
XM_006717072.3	3311	Missense Mutation	CAG,CGG	Q1188R	XP_006717135.1
XM_006717074.3	3311	Missense Mutation	CAG,CGG	Q1056R	XP_006717137.1
XM_011518569.2	3311	Missense Mutation	CAG,CGG	Q1234R	XP_011516871.1
XM_011518570.2	3311	Missense Mutation	CAG,CGG	Q1233R	XP_011516872.1
XM_011518571.2	3311	Missense Mutation	CAG,CGG	Q1229R	XP_011516873.1
XM_011518572.2	3311	Missense Mutation	CAG,CGG	Q1228R	XP_011516874.1
XM_011518573.2	3311	Missense Mutation	CAG,CGG	Q1211R	XP_011516875.1
XM_011518574.2	3311	Missense Mutation	CAG,CGG	Q1203R	XP_011516876.1
XM_011518575.2	3311	Missense Mutation	CAG,CGG	Q1202R	XP_011516877.1
XM_011518576.2	3311	Missense Mutation	CAG,CGG	Q1117R	XP_011516878.1
XM_011518577.2	3311	Missense Mutation	CAG,CGG	Q1116R	XP_011516879.1
XM_011518578.2	3311	Missense Mutation	CAG,CGG	Q1095R	XP_011516880.1
XM_011518579.2	3311	Missense Mutation	CAG,CGG	Q1064R	XP_011516881.1
XM_011518580.2	3311	Intron			XP_011516882.1
XM_011518581.2	3311	Intron			XP_011516883.1
XM_011518582.2	3311	Intron			XP_011516884.1
XM_017014633.1	3311	Missense Mutation	CAG,CGG	Q1203R	XP_016870122.1
XM_017014634.1	3311	Missense Mutation	CAG,CGG	Q1197R	XP_016870123.1
XM_017014635.1	3311	Missense Mutation	CAG,CGG	Q1197R	XP_016870124.1
XM_017014636.1	3311	Missense Mutation	CAG,CGG	Q1189R	XP_016870125.1
XM_017014637.1	3311	Missense Mutation	CAG,CGG	Q1181R	XP_016870126.1
XM_017014638.1	3311	Missense Mutation	CAG,CGG	Q1150R	XP_016870127.1
XM_017014639.1	3311	Missense Mutation	CAG,CGG	Q1148R	XP_016870128.1
XM_017014640.1	3311	Intron			XP_016870129.1
XM_017014641.1	3311	Intron			XP_016870130.1

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