Product Details

SNP ID
rs188198596
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:41444032 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAACCTGCGCCGAGTGGATGTCCA[C/G]CTGCTGGGACAGCTGTGCAGCCTGG
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ATP5SL PubMed Links

Gene Details

Gene
ATP5SL
Gene Name
ATP5S like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167867.1 213 Intron NP_001161339.1
NM_001167868.1 213 Intron NP_001161340.1
NM_001167869.1 213 Intron NP_001161341.1
NM_001167870.1 213 Intron NP_001161342.1
NM_001167871.1 213 Intron NP_001161343.1
NM_001320838.1 213 Intron NP_001307767.1
NM_001320839.1 213 Intron NP_001307768.1
NM_001320840.1 213 Intron NP_001307769.1
NM_001320841.1 213 Intron NP_001307770.1
NM_001320844.1 213 Intron NP_001307773.1
NM_018035.2 213 Intron NP_060505.2
XM_011527065.2 213 Intron XP_011525367.1
Gene
ERICH4
Gene Name
glutamate rich 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130514.1 213 Missense Mutation CAC,CAG H67Q NP_001123986.1
XM_017026119.1 213 Missense Mutation CAC,CAG H88Q XP_016881608.1

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