ZMP

LOC100333116

Ensembl ID:

ENSDARG00000075743

Human Orthologue:

MRPL47

Human Description:

mitochondrial ribosomal protein L47 [Source:HGNC Symbol;Acc:16652]

Mouse Orthologue:

Mrpl47

Mouse Description:

mitochondrial ribosomal protein L47 Gene [Source:MGI Symbol;Acc:MGI:1921850]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa17345	Nonsense	Available for shipment	Available now
sa10686	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa17345

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
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Mutation:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000115031	Nonsense	48	249	2	7

Genomic Location (Zv9):

Chromosome 6 (position 29116076)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	29411719
GRCz11	6	29402280

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TAATATNNGTTTTCATGTTTTTGGSAATTTAGACAAGTGGCTGACTCGTG[G/A]TGGTWCAGAAGTTCTTTGAATAGCCGATCTCTCCACACAACGTGTGTCAG

Long Flanking Sequence:

TTGTTTTAAACTTTATTGTGTTATTCTTGGTGAATTAAGTGTATTCATTGATTTTTTTGTCAAATAAAAAAGTAAAAAACCAAAGAAATATTAATTTAAATGTAAAGCGTCCATGGTTACAAGCAATTTTTAATTTTATGTTAAATAGTTAAGTTAGTTACGTGCATGTGAAGAAATATGTCGAATACATCTTTCTGTCCACGGGGTGGCGCTGCTCGCTTCCGCTCATCGTTTTGTTTGACATTGTCAAGATGGCGGCGGCCGTAACAAGCCGCCTGACTGCTGCTGTCTGTAGACAATTTCAGCGTTTTGTCACAGTGTCTGCTCACGCAAAGCCACAATTTGCGACGTCCACATTTCAACCGTGTCATCAAAGGTACTTTGTTTTGCTGGTTGTATATATCAGTGCGTCGTTGACGGTGCATAAATGAGCATGATTTAGTACGTTACTAATATCTGTTTTCATGTTTTTGGCAATTTAGACAAGTGGCTGACTCGTG[G/A]TGGTTCAGAAGTTCTTTGAATAGCCGATCTCTCCACACAACGTGTGTCAGAAAAGGGCTGGATGAATTTTTTGACTTGCCAGAAAACTGGGGTGAAGAAACTGTAAAATCAGGTATCAAATCCTACGTTTCTATCAGTTAGCTGTTACTCATACTTTAGGGTCCATACCTTGCACTTGGGAGACATAAAGTGACGTTAGTAGTAGTAATCTTCCATCATCGCTTGACTGGTAATAATGTTGTCATACATTTGTTGTTGTTTCATCATAGGTGCTCCATGGACTGCAAAACAGCTAAGGGTGAAAAGTAACGAAGATTTGCATAAACTTTGGTAATTGAGTAGGATTTTTACAGTCTGAAGACTTAAGCAGACAACAGTTATGCTTATTGGCCCATATTTCTTGTATTTTCAGGTATGTTCTCTTGAAGGAAAAGCATATGTTACTCACTGTAGAACAGGAAGCCAAGCGGCAGTGTGTTCAGATGCCCAGTCCAGAGCGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa10686

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

G > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000115031	Essential Splice Site	106	249	3	7

Genomic Location (Zv9):

Chromosome 6 (position 29115745)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	29411388
GRCz11	6	29401949

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ASTGCAAAACAGCTAAGGGTGAAAAGWAACGAAGATTTGCATAAACTTTG[G/T]TAAYTGAGTAGGATTTTTACAGTCTGAMGACTTAANNNNACAACAGTTAT

Long Flanking Sequence:

AAAGCCACAATTTGCGACGTCCACATTTCAACCGTGTCATCAAAGGTACTTTGTTTTGCTGGTTGTATATATCAGTGCGTCGTTGACGGTGCATAAATGAGCATGATTTAGTACGTTACTAATATCTGTTTTCATGTTTTTGGCAATTTAGACAAGTGGCTGACTCGTGGTGGTTCAGAAGTTCTTTGAATAGCCGATCTCTCCACACAACGTGTGTCAGAAAAGGGCTGGATGAATTTTTTGACTTGCCAGAAAACTGGGGTGAAGAAACTGTAAAATCAGGTATCAAATCCTACGTTTCTATCAGTTAGCTGTTACTCATACTTTAGGGTCCATACCTTGCACTTGGGAGACATAAAGTGACGTTAGTAGTAGTAATCTTCCATCATCGCTTGACTGGTAATAATGTTGTCATACATTTGTTGTTGTTTCATCATAGGTGCTCCATGGACTGCAAAACAGCTAAGGGTGAAAAGTAACGAAGATTTGCATAAACTTTG[G/T]TAATTGAGTAGGATTTTTACAGTCTGAAGACTTAAGCAGACAACAGTTATGCTTATTGGCCCATATTTCTTGTATTTTCAGGTATGTTCTCTTGAAGGAAAAGCATATGTTACTCACTGTAGAACAGGAAGCCAAGCGGCAGTGTGTTCAGATGCCCAGTCCAGAGCGCATCAAAAAGGTATTAAAAGTTTTATTAAAATGTTCCGTGTCTGTTGGTTAAATAATCCATTGAATATCGCTGTACAGTGTGACACAGAATGTACATGGTTTACTGTGTATCCCATTGCATGTACGTAATCATTCATTAAGATTGGAGTCAAAAAGTTGTAGTTTTTTATTTTATTAGTACTTTTATTAAAGAAATACACATACAATTTTCATTTCTTTATTAAAATATCATCTTACAACTACGTCTTCTCAATGGAAGTAAGTCAGGGCCAAGAATCTAAAAACACTTGAAATTGTGACAACACTTGATTGTCAACCATTGTCAACCAAAA

Associated Phenotype:

Not determined