Product Details

SNP ID

rs180790213

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:21598496 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGGGGTGTTCCTGAGGATGACA[C/T]GCTCTCCTGGGGAGGGGGTGGAAAG

Phenotype

MIM: 600278

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RAP1GAP PubMed Links

Gene Details

Gene

RAP1GAP

Gene Name

RAP1 GTPase activating protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145657.1	2041	Missense Mutation	ATG,GTG	M621V	NP_001139129.1
NM_001145658.1	2041	Missense Mutation	ATG,GTG	M659V	NP_001139130.1
NM_002885.2	2041	Missense Mutation	ATG,GTG	M595V	NP_002876.2
XM_005245955.3	2041	Missense Mutation	ATG,GTG	M621V	XP_005246012.2
XM_006710804.2	2041	Missense Mutation	ATG,GTG	M680V	XP_006710867.2
XM_006710805.2	2041	Missense Mutation	ATG,GTG	M680V	XP_006710868.2
XM_017001965.1	2041	Missense Mutation	ATG,GTG	M680V	XP_016857454.1
XM_017001966.1	2041	Missense Mutation	ATG,GTG	M680V	XP_016857455.1
XM_017001967.1	2041	Missense Mutation	ATG,GTG	M642V	XP_016857456.1
XM_017001968.1	2041	Missense Mutation	ATG,GTG	M621V	XP_016857457.1
XM_017001969.1	2041	Missense Mutation	ATG,GTG	M621V	XP_016857458.1
XM_017001970.1	2041	Missense Mutation	ATG,GTG	M621V	XP_016857459.1
XM_017001971.1	2041	Missense Mutation	ATG,GTG	M744V	XP_016857460.1
XM_017001972.1	2041	Missense Mutation	ATG,GTG	M595V	XP_016857461.1
XM_017001973.1	2041	Missense Mutation	ATG,GTG	M595V	XP_016857462.1
XM_017001974.1	2041	Missense Mutation	ATG,GTG	M583V	XP_016857463.1
XM_017001975.1	2041	Missense Mutation	ATG,GTG	M595V	XP_016857464.1
XM_017001976.1	2041	Missense Mutation	ATG,GTG	M557V	XP_016857465.1
XM_017001977.1	2041	Missense Mutation	ATG,GTG	M557V	XP_016857466.1
XM_017001978.1	2041	Missense Mutation	ATG,GTG	M680V	XP_016857467.1
XM_017001979.1	2041	Missense Mutation	ATG,GTG	M680V	XP_016857468.1
XM_017001980.1	2041	Missense Mutation	ATG,GTG	M659V	XP_016857469.1
XM_017001981.1	2041	Missense Mutation	ATG,GTG	M621V	XP_016857470.1
XM_017001982.1	2041	Missense Mutation	ATG,GTG	M621V	XP_016857471.1
XM_017001983.1	2041	Missense Mutation	ATG,GTG	M621V	XP_016857472.1
XM_017001984.1	2041	Missense Mutation	ATG,GTG	M621V	XP_016857473.1
XM_017001985.1	2041	Missense Mutation	ATG,GTG	M621V	XP_016857474.1
XM_017001986.1	2041	Missense Mutation	ATG,GTG	M595V	XP_016857475.1
XM_017001987.1	2041	Missense Mutation	ATG,GTG	M595V	XP_016857476.1
XM_017001988.1	2041	Missense Mutation	ATG,GTG	M595V	XP_016857477.1
XM_017001989.1	2041	Missense Mutation	ATG,GTG	M595V	XP_016857478.1
XM_017001990.1	2041	Missense Mutation	ATG,GTG	M595V	XP_016857479.1
XM_017001991.1	2041	Missense Mutation	ATG,GTG	M557V	XP_016857480.1

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