Product Details

SNP ID

rs78019753

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:68421503 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTTAATATAAAATTCCGGTTATA[C/T]ACCAATATGGTTAATTAGCATTTAC

Phenotype

MIM: 610008 MIM: 188830 MIM: 609224

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARSG PubMed Links

Gene Details

Gene

ARSG

Gene Name

arylsulfatase G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267727.1	3148	Intron			NP_001254656.1
NM_014960.4	3148	Intron			NP_055775.2
XM_005257170.3	3148	Intron			XP_005257227.1
XM_005257172.3	3148	Intron			XP_005257229.1
XM_006721777.3	3148	Intron			XP_006721840.2
XM_006721779.3	3148	Intron			XP_006721842.1
XM_011524535.2	3148	Intron			XP_011522837.1
XM_011524536.2	3148	Intron			XP_011522838.1
XM_011524537.1	3148	Intron			XP_011522839.1
XM_011524538.2	3148	Intron			XP_011522840.1
XM_011524540.2	3148	Intron			XP_011522842.1
XM_011524541.2	3148	Intron			XP_011522843.1
XM_011524542.2	3148	Intron			XP_011522844.1
XM_011524543.2	3148	Intron			XP_011522845.1
XM_011524544.2	3148	Intron			XP_011522846.1
XM_011524545.2	3148	UTR 3			XP_011522847.1
XM_011524546.2	3148	Intron			XP_011522848.1
XM_017024360.1	3148	Intron			XP_016879849.1
XM_017024361.1	3148	Intron			XP_016879850.1
XM_017024362.1	3148	Intron			XP_016879851.1
XM_017024363.1	3148	Intron			XP_016879852.1
XM_017024364.1	3148	Intron			XP_016879853.1
XM_017024365.1	3148	Intron			XP_016879854.1
XM_017024366.1	3148	Intron			XP_016879855.1
XM_017024367.1	3148	Intron			XP_016879856.1
XM_017024368.1	3148	UTR 3			XP_016879857.1

Gene

MIR635

Gene Name

microRNA 635

There are no transcripts associated with this gene.

Gene

PRKAR1A

Gene Name

protein kinase cAMP-dependent type I regulatory subunit alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276289.1	3148	Intron			NP_001263218.1
NM_001276290.1	3148	Intron			NP_001263219.1
NM_001278433.1	3148	Intron			NP_001265362.1
NM_002734.4	3148	Intron			NP_002725.1
NM_212471.2	3148	Intron			NP_997636.1
NM_212472.2	3148	Intron			NP_997637.1
XM_011524983.2	3148	Intron			XP_011523285.1
XM_011524984.2	3148	Intron			XP_011523286.1
XM_011524985.2	3148	Intron			XP_011523287.1

Gene

WIPI1

Gene Name

WD repeat domain, phosphoinositide interacting 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320772.1	3148	UTR 3			NP_001307701.1
NM_017983.6	3148	UTR 3			NP_060453.3
XM_017024808.1	3148	UTR 3			XP_016880297.1

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