Assay Details
Target Gene Details
Entrez Gene ID: | 127281 |
Gene Name: | family with sequence similarity 213 member B |
Gene Aliases: |
C1orf93 |
Location: |
Chr.1:2586460-2591469 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FAM213B | NM_001195736.1 | 7 | 2071 | NP_001182665.1 |
NM_001195737.1 | 7 | 2005 | NP_001182666.1 | |
NM_001195738.1 | 7 | 1985 | NP_001182667.1 | |
NM_001195740.1 | 6 | 1909 | NP_001182669.1 | |
NM_001195741.1 | 6 | 1906 | NP_001182670.1 | |
NM_152371.3 | 7 | 2017 | NP_689584.2 | |
NR_036637.1 | 7 | 1950 | ||
NR_036638.1 | 7 | 1918 | ||
XM_006710354.3 | 7 | 2005 | XP_006710417.1 | |
XM_011540664.1 | 7 | 2061 | XP_011538966.1 | |
XM_011540665.1 | 7 | 2029 | XP_011538967.1 | |
XM_011540666.1 | 7 | 2009 | XP_011538968.1 | |
AF425266.1 | 7 | 1961 | AAP97295.1 | |
AK057027.1 | 7 | 2002 | ||
AK075273.1 | 7 | 1937 | BAC11511.1 | |
AK094901.1 | 6 | 1819 | ||
BC022547.1 | 7 | 1957 | AAH22547.1 | |
CR749706.1 | 2 | 1749 |
Target Gene Details
Entrez Gene ID: | 79258 |
Gene Name: | membrane metallo-endopeptidase-like 1 |
Gene Aliases: |
MMEL2, NEP2, NEPII, NL1, NL2, SEP |
Location: |
Chr.1:2590639-2633042 on Build GRCh38 |
Assay Gene Location: | Within Exon 26 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MMEL1 | NM_033467.3 | 24 | 2833 | NP_258428.2 |
XM_011542122.2 | 17 | 1936 | XP_011540424.1 | |
XM_017002310.1 | 25 | 3099 | XP_016857799.1 | |
XM_017002311.1 | 24 | 2779 | XP_016857800.1 | |
XM_017002312.1 | 23 | 2751 | XP_016857801.1 | |
XM_017002313.1 | 23 | 2737 | XP_016857802.1 | |
XM_017002314.1 | 23 | 2704 | XP_016857803.1 | |
XM_017002315.1 | 24 | 2709 | XP_016857804.1 | |
AF336981.1 | 23 | 2656 | AAL08942.1 | |
AK093058.1 | 24 | 2781 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv829648 | Chr.1:2567689 - 2640901 on Build GRCh38 | Loss | TTC34 FAM213B MMEL1 LOC100996583 |
esv3582248 | Chr.1:2569899 - 2636548 on Build GRCh38 | Gain | FAM213B MMEL1 LOC100996583 |
nsv545077 | Chr.1:2428542 - 2622185 on Build GRCh38 | Gain | HES5 FAM213B PANK4 MMEL1 TNFRSF14 LOC100996583 LOC115110 PLCH2 |
nsv545082 | Chr.1:2536231 - 2597243 on Build GRCh38 | Loss | FAM213B MMEL1 TNFRSF14 LOC100996583 LOC115110 |
nsv470684 | Chr.1:2394570 - 2930923 on Build GRCh38 | Loss | TTC34 HES5 FAM213B PEX10 PANK4 MMEL1 TNFRSF14 LOC100996583 LOC115110 RER1 PLCH2 |
nsv545083 | Chr.1:2575976 - 2653099 on Build GRCh38 | Gain | TTC34 FAM213B MMEL1 LOC100996583 |
nsv951592 | Chr.1:2564862 - 2613961 on Build GRCh38 | Deletion | FAM213B MMEL1 TNFRSF14 LOC100996583 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |