Product Details

SNP ID

rs78817662

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:47850693 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACGAGACAGAAGCACGAAGCCTG[C/T]GTGATGGGACATCAGGCAGCTTTAT

Phenotype

MIM: 616423 MIM: 157132

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DHX30 PubMed Links

Gene Details

Gene

DHX30

Gene Name

DEAH-box helicase 30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014966.3	6033	Intron			NP_055781.2
NM_138615.2	6033	Intron			NP_619520.1
XM_006713033.1	6033	Intron			XP_006713096.1
XM_011533490.1	6033	Intron			XP_011531792.1
XM_011533491.1	6033	Intron			XP_011531793.1
XM_011533492.2	6033	Intron			XP_011531794.1
XM_011533493.1	6033	Intron			XP_011531795.1
XM_011533494.2	6033	Intron			XP_011531796.1
XM_011533495.1	6033	Intron			XP_011531797.1
XM_011533496.1	6033	Intron			XP_011531798.1
XM_011533497.2	6033	Intron			XP_011531799.1
XM_011533498.1	6033	Intron			XP_011531800.1
XM_017005914.1	6033	Intron			XP_016861403.1
XM_017005915.1	6033	Intron			XP_016861404.1
XM_017005916.1	6033	Intron			XP_016861405.1
XM_017005917.1	6033	Intron			XP_016861406.1

Gene

MAP4

Gene Name

microtubule associated protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134364.1	6033	UTR 3			NP_001127836.1
NM_002375.4	6033	UTR 3			NP_002366.2
NM_030885.3	6033	Intron			NP_112147.2
XM_005265133.4	6033	Intron			XP_005265190.1
XM_005265134.4	6033	Intron			XP_005265191.1
XM_005265155.4	6033	Intron			XP_005265212.1
XM_005265157.4	6033	Intron			XP_005265214.1
XM_005265158.2	6033	Intron			XP_005265215.1
XM_006713146.3	6033	Intron			XP_006713209.1
XM_006713147.3	6033	Intron			XP_006713210.1
XM_006713152.3	6033	Intron			XP_006713215.1
XM_011533703.2	6033	Intron			XP_011532005.1
XM_011533704.2	6033	Intron			XP_011532006.1
XM_011533705.1	6033	Intron			XP_011532007.1
XM_011533708.2	6033	Intron			XP_011532010.1
XM_011533709.2	6033	Intron			XP_011532011.1
XM_011533710.2	6033	Intron			XP_011532012.1
XM_011533718.1	6033	Intron			XP_011532020.1
XM_011533719.2	6033	Intron			XP_011532021.1
XM_017006391.1	6033	Intron			XP_016861880.1
XM_017006392.1	6033	Intron			XP_016861881.1
XM_017006393.1	6033	Intron			XP_016861882.1
XM_017006394.1	6033	Intron			XP_016861883.1
XM_017006395.1	6033	Intron			XP_016861884.1
XM_017006396.1	6033	Intron			XP_016861885.1
XM_017006397.1	6033	Intron			XP_016861886.1
XM_017006398.1	6033	Intron			XP_016861887.1
XM_017006399.1	6033	Intron			XP_016861888.1
XM_017006400.1	6033	Intron			XP_016861889.1
XM_017006401.1	6033	Intron			XP_016861890.1
XM_017006402.1	6033	Intron			XP_016861891.1
XM_017006403.1	6033	Intron			XP_016861892.1
XM_017006404.1	6033	Intron			XP_016861893.1
XM_017006405.1	6033	Intron			XP_016861894.1
XM_017006406.1	6033	Intron			XP_016861895.1
XM_017006407.1	6033	Intron			XP_016861896.1
XM_017006408.1	6033	Intron			XP_016861897.1
XM_017006409.1	6033	Intron			XP_016861898.1
XM_017006410.1	6033	Intron			XP_016861899.1
XM_017006411.1	6033	Intron			XP_016861900.1
XM_017006412.1	6033	Intron			XP_016861901.1
XM_017006413.1	6033	Intron			XP_016861902.1
XM_017006414.1	6033	Intron			XP_016861903.1
XM_017006415.1	6033	Intron			XP_016861904.1
XM_017006416.1	6033	Intron			XP_016861905.1
XM_017006417.1	6033	Intron			XP_016861906.1
XM_017006418.1	6033	Intron			XP_016861907.1
XM_017006419.1	6033	Intron			XP_016861908.1
XM_017006420.1	6033	Intron			XP_016861909.1
XM_017006421.1	6033	Intron			XP_016861910.1
XM_017006422.1	6033	Intron			XP_016861911.1

Gene

MIR1226

Gene Name

microRNA 1226

There are no transcripts associated with this gene.

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