Product Details

SNP ID

rs199732201

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:58159620 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTACTCTTAGTGAAGAGACAAACG[C/T]AGATGTTTATTATTATCGCATCATC

Phenotype

MIM: 608111 MIM: 602169

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FANCL PubMed Links

Gene Details

Gene

FANCL

Gene Name

Fanconi anemia complementation group L

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114636.1	1692	UTR 3			NP_001108108.1
NM_018062.3	1692	UTR 3			NP_060532.2
XM_005264395.3	1692	UTR 3			XP_005264452.1
XM_005264397.4	1692	UTR 3			XP_005264454.1
XM_011532939.2	1692	UTR 3			XP_011531241.1
XM_011532940.2	1692	UTR 3			XP_011531242.1
XM_011532941.1	1692	UTR 3			XP_011531243.1
XM_011532942.2	1692	UTR 3			XP_011531244.1
XM_011532944.2	1692	UTR 3			XP_011531246.1
XM_011532945.2	1692	UTR 3			XP_011531247.1
XM_017004414.1	1692	UTR 3			XP_016859903.1
XM_017004415.1	1692	Intron			XP_016859904.1
XM_017004416.1	1692	UTR 3			XP_016859905.1

Gene

VRK2

Gene Name

vaccinia related kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130480.2	1692	Missense Mutation	GCA,GTA	A485V	NP_001123952.1
NM_001130481.2	1692	Missense Mutation	GCA,GTA	A485V	NP_001123953.1
NM_001130482.2	1692	Missense Mutation	GCA,GTA	A462V	NP_001123954.1
NM_001130483.2	1692	UTR 3			NP_001123955.1
NM_001288836.1	1692	Missense Mutation	GCA,GTA	A367V	NP_001275765.1
NM_001288837.1	1692	Missense Mutation	GCA,GTA	A485V	NP_001275766.1
NM_001288838.1	1692	UTR 3			NP_001275767.1
NM_001288839.1	1692	Missense Mutation	GCA,GTA	A367V	NP_001275768.1
NM_006296.6	1692	Missense Mutation	GCA,GTA	A485V	NP_006287.2
XM_005264540.4	1692	Missense Mutation	GCA,GTA	A485V	XP_005264597.1
XM_006712090.3	1692	UTR 3			XP_006712153.1
XM_006712091.3	1692	UTR 3			XP_006712154.1
XM_006712092.3	1692	Missense Mutation	GCA,GTA	A367V	XP_006712155.1
XM_006712093.3	1692	Missense Mutation	GCA,GTA	A367V	XP_006712156.1
XM_011533092.2	1692	Missense Mutation	GCA,GTA	A485V	XP_011531394.1
XM_017004858.1	1692	UTR 3			XP_016860347.1
XM_017004859.1	1692	Missense Mutation	GCA,GTA	A367V	XP_016860348.1
XM_017004860.1	1692	Missense Mutation	GCA,GTA	A367V	XP_016860349.1
XM_017004861.1	1692	Missense Mutation	GCA,GTA	A367V	XP_016860350.1
XM_017004862.1	1692	Missense Mutation	GCA,GTA	A367V	XP_016860351.1
XM_017004863.1	1692	Missense Mutation	GCA,GTA	A367V	XP_016860352.1
XM_017004864.1	1692	UTR 3			XP_016860353.1
XM_017004865.1	1692	UTR 3			XP_016860354.1
XM_017004866.1	1692	UTR 3			XP_016860355.1

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