Product Details

SNP ID

rs115729762

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:990324 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGATAGCTTATCTACATCCTTAAA[C/T]TAATGGCTGTAGCTACCCTCTGCAT

Phenotype

MIM: 607127 MIM: 600392

Polymorphism

C/T, 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	725	Intron			NP_001288177.1
NM_178039.3	725	Intron			NP_829883.1
NM_178040.3	725	Intron			NP_829884.1
XM_011520941.2	725	Intron			XP_011519243.1
XM_017019052.1	725	Intron			XP_016874541.1
XM_017019053.1	725	Intron			XP_016874542.1
XM_017019054.1	725	Intron			XP_016874543.1
XM_017019055.1	725	Intron			XP_016874544.1
XM_017019056.1	725	Intron			XP_016874545.1
XM_017019057.1	725	Intron			XP_016874546.1
XM_017019058.1	725	Intron			XP_016874547.1
XM_017019059.1	725	Intron			XP_016874548.1
XM_017019060.1	725	Intron			XP_016874549.1
XM_017019061.1	725	Intron			XP_016874550.1
XM_017019062.1	725	Intron			XP_016874551.1
XM_017019063.1	725	Intron			XP_016874552.1
XM_017019064.1	725	Intron			XP_016874553.1
XM_017019065.1	725	Intron			XP_016874554.1
XM_017019066.1	725	Intron			XP_016874555.1
XM_017019067.1	725	Intron			XP_016874556.1
XM_017019068.1	725	Intron			XP_016874557.1
XM_017019069.1	725	Intron			XP_016874558.1
XM_017019070.1	725	Intron			XP_016874559.1
XM_017019071.1	725	Intron			XP_016874560.1
XM_017019072.1	725	Intron			XP_016874561.1
XM_017019073.1	725	Intron			XP_016874562.1
XM_017019074.1	725	Intron			XP_016874563.1
XM_017019075.1	725	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	725	Intron			NP_001284348.1
NM_001297420.1	725	Intron			NP_001284349.1
NM_001297421.1	725	Intron			NP_001284350.1
NM_001297422.1	725	Intron			NP_001284351.1
NM_134424.3	725	Intron			NP_602296.2
XM_005253720.4	725	UTR 5			XP_005253777.1
XM_005253721.2	725	Intron			XP_005253778.1
XM_011520990.2	725	Intron			XP_011519292.1
XM_011520991.2	725	Intron			XP_011519293.1
XM_011520993.2	725	Intron			XP_011519295.1
XM_011520995.2	725	Intron			XP_011519297.1
XM_017019769.1	725	Intron			XP_016875258.1
XM_017019770.1	725	Intron			XP_016875259.1
XM_017019771.1	725	Intron			XP_016875260.1

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