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Entrez Gene ID: | 79147 |
Gene Name: | fukutin related protein |
Gene Aliases: |
LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5 |
Location: |
Chr.19:46746015-46758575 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FKRP | NM_001039885.2 | NP_001034974.1 | ||
NM_024301.4 | NP_077277.1 | |||
XM_005259247.2 | XP_005259304.1 | |||
XM_005259248.2 | XP_005259305.1 | |||
XM_005259249.4 | XP_005259306.1 | |||
XM_011527306.1 | XP_011525608.1 | |||
XM_011527307.1 | XP_011525609.1 | |||
XM_017027297.1 | XP_016882786.1 | |||
AJ314847.1 | CAC85633.1 | |||
AK022638.1 | BAB14146.1 | |||
AK095497.1 | ||||
AK291282.1 | ||||
BC002612.2 | AAH02612.1 | |||
BM979509.1 | ||||
DA123579.1 | ||||
DB090073.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833850 | Chr.19:46703285 - 46867053 on Build GRCh38 | Loss | SNAR-E FKRP SLC1A5 LOC107987269 STRN4 PRKD2 MIR320E ARHGAP35 AP2S1 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |