Product Details

SNP ID: rs45446506
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:67472138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCAGCCTTGCTGGGAGGAGTTTGGG[C/G]AGAGGGGCAGCCCTGAGGTTCTGCT
Phenotype: MIM: 603930
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: GPHN PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Protein ID
NM_001024218.1	2202	Intron	NP_001019389.1
NM_020806.4	2202	Intron	NP_065857.1
XM_005267254.3	2202	Intron	XP_005267311.1
XM_011536340.2	2202	Intron	XP_011534642.1
XM_011536342.2	2202	Intron	XP_011534644.1
XM_011536343.2	2202	Intron	XP_011534645.1
XM_011536344.2	2202	Intron	XP_011534646.1
XM_011536345.2	2202	Intron	XP_011534647.1
XM_011536346.2	2202	Intron	XP_011534648.1
XM_011536347.2	2202	Intron	XP_011534649.1
XM_017020913.1	2202	Intron	XP_016876402.1
XM_017020914.1	2202	Intron	XP_016876403.1
XM_017020915.1	2202	Intron	XP_016876404.1
XM_017020916.1	2202	Intron	XP_016876405.1
XM_017020917.1	2202	Intron	XP_016876406.1
XM_017020918.1	2202	Intron	XP_016876407.1
XM_017020919.1	2202	Intron	XP_016876408.1
XM_017020920.1	2202	Intron	XP_016876409.1
XM_017020921.1	2202	Intron	XP_016876410.1
XM_017020922.1	2202	Intron	XP_016876411.1
XM_017020923.1	2202	Intron	XP_016876412.1
XM_017020924.1	2202	Intron	XP_016876413.1
XM_017020925.1	2202	Intron	XP_016876414.1
XM_017020926.1	2202	Intron	XP_016876415.1

Transcript Accession	SNP Location	SNP Type	Protein ID
NM_182526.2	2202	UTR 3	NP_872332.1
XM_005267373.2	2202	UTR 3	XP_005267430.1
XM_005267374.3	2202	UTR 3	XP_005267431.1
XM_005267375.2	2202	UTR 3	XP_005267432.1
XM_006720062.2	2202	UTR 3	XP_006720125.1
XM_017021051.1	2202	UTR 3	XP_016876540.1
XM_017021052.1	2202	UTR 3	XP_016876541.1
XM_017021053.1	2202	UTR 3	XP_016876542.1
XM_017021054.1	2202	UTR 3	XP_016876543.1
XM_017021055.1	2202	UTR 3	XP_016876544.1