Product Details

SNP ID

rs117928919

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:11884215 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCAACCTTTGATGATACATATA[A/T]TTGATAAAAATGAGAAAACAGATTT

Phenotype

MIM: 139312 MIM: 611900

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GNAL PubMed Links

Gene Details

Gene

GNAL

Gene Name

G protein subunit alpha L

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142339.2	2708	UTR 3			NP_001135811.1
NM_001261443.1	2708	UTR 3			NP_001248372.1
NM_001261444.1	2708	UTR 3			NP_001248373.1
NM_182978.3	2708	UTR 3			NP_892023.1
XM_006722324.2	2708	Intron			XP_006722387.1

Gene

MPPE1

Gene Name

metallophosphoesterase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242904.1	2708	UTR 3			NP_001229833.1
NM_001319154.1	2708	UTR 3			NP_001306083.1
NM_023075.5	2708	UTR 3			NP_075563.3
XM_006722340.3	2708	UTR 3			XP_006722403.1
XM_006722341.3	2708	UTR 3			XP_006722404.1
XM_006722342.3	2708	UTR 3			XP_006722405.1
XM_006722343.3	2708	UTR 3			XP_006722406.1
XM_006722345.3	2708	UTR 3			XP_006722408.1
XM_006722346.2	2708	UTR 3			XP_006722409.1
XM_006722347.3	2708	UTR 3			XP_006722410.1
XM_006722348.2	2708	Intron			XP_006722411.1
XM_011525731.2	2708	UTR 3			XP_011524033.1
XM_011525732.1	2708	UTR 3			XP_011524034.1
XM_011525734.1	2708	UTR 3			XP_011524036.1
XM_017025920.1	2708	UTR 3			XP_016881409.1
XM_017025921.1	2708	UTR 3			XP_016881410.1
XM_017025922.1	2708	UTR 3			XP_016881411.1
XM_017025923.1	2708	UTR 3			XP_016881412.1
XM_017025924.1	2708	UTR 3			XP_016881413.1
XM_017025925.1	2708	UTR 3			XP_016881414.1
XM_017025926.1	2708	UTR 3			XP_016881415.1
XM_017025927.1	2708	UTR 3			XP_016881416.1
XM_017025928.1	2708	UTR 3			XP_016881417.1
XM_017025929.1	2708	UTR 3			XP_016881418.1
XM_017025930.1	2708	UTR 3			XP_016881419.1
XM_017025931.1	2708	Intron			XP_016881420.1

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