Product Details

SNP ID
rs75879167
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:992042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTTGGCTCAGGTAAATTGTGAGC[A/G]TGGATGTATCTGAAAGTTTTACACC
Phenotype
MIM: 607127 MIM: 600392
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ERC1 PubMed Links

Gene Details

Gene
ERC1
Gene Name
ELKS/RAB6-interacting/CAST family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301248.1 Intron NP_001288177.1
NM_178039.3 Intron NP_829883.1
NM_178040.3 Intron NP_829884.1
XM_011520941.2 Intron XP_011519243.1
XM_017019052.1 Intron XP_016874541.1
XM_017019053.1 Intron XP_016874542.1
XM_017019054.1 Intron XP_016874543.1
XM_017019055.1 Intron XP_016874544.1
XM_017019056.1 Intron XP_016874545.1
XM_017019057.1 Intron XP_016874546.1
XM_017019058.1 Intron XP_016874547.1
XM_017019059.1 Intron XP_016874548.1
XM_017019060.1 Intron XP_016874549.1
XM_017019061.1 Intron XP_016874550.1
XM_017019062.1 Intron XP_016874551.1
XM_017019063.1 Intron XP_016874552.1
XM_017019064.1 Intron XP_016874553.1
XM_017019065.1 Intron XP_016874554.1
XM_017019066.1 Intron XP_016874555.1
XM_017019067.1 Intron XP_016874556.1
XM_017019068.1 Intron XP_016874557.1
XM_017019069.1 Intron XP_016874558.1
XM_017019070.1 Intron XP_016874559.1
XM_017019071.1 Intron XP_016874560.1
XM_017019072.1 Intron XP_016874561.1
XM_017019073.1 Intron XP_016874562.1
XM_017019074.1 Intron XP_016874563.1
XM_017019075.1 Intron XP_016874564.1
Gene
RAD52
Gene Name
RAD52 homolog, DNA repair protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297419.1 Intron NP_001284348.1
NM_001297420.1 Intron NP_001284349.1
NM_001297421.1 Intron NP_001284350.1
NM_001297422.1 Intron NP_001284351.1
NM_134424.3 Intron NP_602296.2
XM_005253720.4 Intron XP_005253777.1
XM_005253721.2 Intron XP_005253778.1
XM_011520990.2 Intron XP_011519292.1
XM_011520991.2 Intron XP_011519293.1
XM_011520993.2 Intron XP_011519295.1
XM_011520995.2 Intron XP_011519297.1
XM_017019769.1 Intron XP_016875258.1
XM_017019770.1 Intron XP_016875259.1
XM_017019771.1 Intron XP_016875260.1

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