Product Details

SNP ID

rs199517077

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:21598052 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACTTGCCGGCGTCTGGGTGGGGT[A/G]ATCGAGAGGGGCCTGGGGAGGGGGG

Phenotype

MIM: 600278

Polymorphism

A/G, 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	2150	Intron			NP_001139129.1
NM_001145658.1	2150	Missense Mutation	TCA,TTA	S695L	NP_001139130.1
NM_002885.2	2150	Missense Mutation	TCA,TTA	S631L	NP_002876.2
XM_005245955.3	2150	Intron			XP_005246012.2
XM_006710804.2	2150	Missense Mutation	TCA,TTA	S716L	XP_006710867.2
XM_006710805.2	2150	Intron			XP_006710868.2
XM_017001965.1	2150	Missense Mutation	TCA,TTA	S716L	XP_016857454.1
XM_017001966.1	2150	Intron			XP_016857455.1
XM_017001967.1	2150	Missense Mutation	TCA,TTA	S678L	XP_016857456.1
XM_017001968.1	2150	Missense Mutation	TCA,TTA	S657L	XP_016857457.1
XM_017001969.1	2150	Missense Mutation	TCA,TTA	S657L	XP_016857458.1
XM_017001970.1	2150	Intron			XP_016857459.1
XM_017001971.1	2150	Intron			XP_016857460.1
XM_017001972.1	2150	Intron			XP_016857461.1
XM_017001973.1	2150	Missense Mutation	TCA,TTA	S631L	XP_016857462.1
XM_017001974.1	2150	Missense Mutation	TCA,TTA	S619L	XP_016857463.1
XM_017001975.1	2150	Intron			XP_016857464.1
XM_017001976.1	2150	Missense Mutation	TCA,TTA	S593L	XP_016857465.1
XM_017001977.1	2150	Intron			XP_016857466.1
XM_017001978.1	2150	Missense Mutation	TCA,TTA	S716L	XP_016857467.1
XM_017001979.1	2150	Intron			XP_016857468.1
XM_017001980.1	2150	Intron			XP_016857469.1
XM_017001981.1	2150	Missense Mutation	TCA,TTA	S657L	XP_016857470.1
XM_017001982.1	2150	Missense Mutation	TCA,TTA	S657L	XP_016857471.1
XM_017001983.1	2150	Missense Mutation	TCA,TTA	S657L	XP_016857472.1
XM_017001984.1	2150	Intron			XP_016857473.1
XM_017001985.1	2150	Intron			XP_016857474.1
XM_017001986.1	2150	Missense Mutation	TCA,TTA	S631L	XP_016857475.1
XM_017001987.1	2150	Missense Mutation	TCA,TTA	S631L	XP_016857476.1
XM_017001988.1	2150	Missense Mutation	TCA,TTA	S631L	XP_016857477.1
XM_017001989.1	2150	Intron			XP_016857478.1
XM_017001990.1	2150	Intron			XP_016857479.1
XM_017001991.1	2150	Missense Mutation	TCA,TTA	S593L	XP_016857480.1

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