Product Details

SNP ID

rs141308173

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:131580322 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAACTGCTGCCACCGCTTGGAGAA[A/G]TTCACTTTCCCGTCGATGTAGTCTG

Phenotype

MIM: 600303

Polymorphism

A/G, 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	3237	Silent Mutation	AAC,AAT	N1025N	NP_001291204.1
NM_005312.3	3237	Silent Mutation	AAC,AAT	N1008N	NP_005303.2
NM_198679.1	3237	Silent Mutation	AAC,AAT	N1026N	NP_941372.1
XM_005272186.4	3237	Silent Mutation	AAC,AAT	N1195N	XP_005272243.1
XM_005272191.3	3237	Silent Mutation	AAC,AAT	N1157N	XP_005272248.1
XM_006717067.3	3237	Silent Mutation	AAC,AAT	N1201N	XP_006717130.1
XM_006717072.3	3237	Silent Mutation	AAC,AAT	N1163N	XP_006717135.1
XM_006717074.3	3237	Silent Mutation	AAC,AAT	N1031N	XP_006717137.1
XM_011518569.2	3237	Silent Mutation	AAC,AAT	N1209N	XP_011516871.1
XM_011518570.2	3237	Silent Mutation	AAC,AAT	N1208N	XP_011516872.1
XM_011518571.2	3237	Silent Mutation	AAC,AAT	N1204N	XP_011516873.1
XM_011518572.2	3237	Silent Mutation	AAC,AAT	N1203N	XP_011516874.1
XM_011518573.2	3237	Silent Mutation	AAC,AAT	N1186N	XP_011516875.1
XM_011518574.2	3237	Silent Mutation	AAC,AAT	N1178N	XP_011516876.1
XM_011518575.2	3237	Silent Mutation	AAC,AAT	N1177N	XP_011516877.1
XM_011518576.2	3237	Silent Mutation	AAC,AAT	N1092N	XP_011516878.1
XM_011518577.2	3237	Silent Mutation	AAC,AAT	N1091N	XP_011516879.1
XM_011518578.2	3237	Silent Mutation	AAC,AAT	N1070N	XP_011516880.1
XM_011518579.2	3237	Silent Mutation	AAC,AAT	N1039N	XP_011516881.1
XM_011518580.2	3237	Intron			XP_011516882.1
XM_011518581.2	3237	Intron			XP_011516883.1
XM_011518582.2	3237	Intron			XP_011516884.1
XM_017014633.1	3237	Silent Mutation	AAC,AAT	N1178N	XP_016870122.1
XM_017014634.1	3237	Silent Mutation	AAC,AAT	N1172N	XP_016870123.1
XM_017014635.1	3237	Silent Mutation	AAC,AAT	N1172N	XP_016870124.1
XM_017014636.1	3237	Silent Mutation	AAC,AAT	N1164N	XP_016870125.1
XM_017014637.1	3237	Silent Mutation	AAC,AAT	N1156N	XP_016870126.1
XM_017014638.1	3237	Silent Mutation	AAC,AAT	N1125N	XP_016870127.1
XM_017014639.1	3237	Silent Mutation	AAC,AAT	N1123N	XP_016870128.1
XM_017014640.1	3237	Intron			XP_016870129.1
XM_017014641.1	3237	Intron			XP_016870130.1

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