ZMP

si:ch211-155i15.6

Ensembl ID:

ENSDARG00000075490

ZFIN ID:

ZDB-GENE-091117-35

Human Orthologue:

ABCA3

Human Description:

ATP-binding cassette, sub-family A (ABC1), member 3 [Source:HGNC Symbol;Acc:33]

Mouse Orthologues:

Abca14, Abca15, Abca16, Abca17, Abca3

Mouse Descriptions:

ATP-binding cassette, sub-family A (ABC1), member 14 Gene [Source:MGI Symbol;Acc:MGI:2388708]
ATP-binding cassette, sub-family A (ABC1), member 15 Gene [Source:MGI Symbol;Acc:MGI:2388709]
ATP-binding cassette, sub-family A (ABC1), member 16 Gene [Source:MGI Symbol;Acc:MGI:2388711]
ATP-binding cassette, sub-family A (ABC1), member 17 Gene [Source:MGI Symbol;Acc:MGI:3625331]
ATP-binding cassette, sub-family A (ABC1), member 3 Gene [Source:MGI Symbol;Acc:MGI:1351617]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa33105	Nonsense	Mutation detected in F1 DNA	Not yet available
sa40008	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa33105

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000111777	Nonsense	776	1292	14	23
ENSDART00000132791	Nonsense	611	1127	11	20

Genomic Location (Zv9):

Chromosome 3 (position 12588348)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	12527301
GRCz11	3	12678750

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTTGTAGCCCAAAACCACCTGGTGGATGTTCTGTTCTTGCTGCTTCTGTA[C/A]GGCTGGGCGGTGATTCCTCTCATGTACTTGATGAGTTTCCTGTTTTCCAC

Long Flanking Sequence:

GTTGTTCTTTCTTTTTCTTCATTGTACCTGATTTTTGTATCTGCAGGAGTCAGACAGGCTTTGCCATCGCCATAAACCTGATGTACGGCATGGCTTCATTAGCCAGCACCTTTGCCCTGCTCCTCGTGTCCGAGCGCTCGGTCAAGTCCAAGCACGTGCAGCAGGTCAGCGGGGTTTACCTCACCAACTTCTGGTTCTCTGCCCTGCTGTGGGACCTCATCAACTTCCTGTTACCCTGCTTGCTCATGCTGGTCAGTATAAGTTTCTATCTATGACAAAACTACAGTATCATTAGGCTAGTTTAATACAGATGGCTTTTTCCAGTGCCTTGGACAGATGATTTGCATAATCAAACTTTTAGTAGTTCCCTCAATAAGTTCATTGTTTGAATTACATCCATGCCTGACATGTTCTCCTCAGGTGGTCTTCAGAGTGTTCTCAGTGAAGGCGTTTGTAGCCCAAAACCACCTGGTGGATGTTCTGTTCTTGCTGCTTCTGTA[C/A]GGCTGGGCGGTGATTCCTCTCATGTACTTGATGAGTTTCCTGTTTTCCACGGCCGCCACAGCCTACACGCGCCTCACCATCTTCAACATCATCAGCGGCACCGCCACCTTCCTCGCCGTCACCATCATGACCATACCTGGTGAGACACGCACGTCCCCATTTTAGTTTTGTGCCTTGCAAGAACATCTTTTCACTCCCTTTATGTTTTCTCCCAGAGCTGAATTTGCTCCATCTCTCGCACCTCCTGGATAAGGTCTTCCTGATCTTCCCGAATTACTGCCTGGGCATGTCCTTCACTGAGTTCTACCAGAACTACGAGATGATCACCTTCTGCACCTCCAGCCCCTTAGCGAAGTACATCTGCAAGTACTACAGTGAGTTTCTGATGTGATGAACACACAAGCTGAAGAACCACACACCTGGAAAATACAGCTGTGGCGAAACATTTGCAGGAAGTTGATTGTGCATCAATTCAGAGATATTTAAAATGCATCATACTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa40008

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000111777	Nonsense	981	1292	18	23
ENSDART00000132791	Nonsense	816	1127	15	20

Genomic Location (Zv9):

Chromosome 3 (position 12578505)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	12537144
GRCz11	3	12688593

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATCCACTCAGGATCTGTGTTTGTCTCACTAGATGTATTCAGGTGGGCAGT[C/A]GCTGTTAGCAGTGGACCGTCTCTCATTGGCCGTTGGGAAGGGCGAGTGCT

Long Flanking Sequence:

GTATGCGTATTAAAAAAATCGTGTGATTTTGTTATAAGAGATCATGTGATGATAAAAATGTCGGTGAATGATCAAACCAGCAGGTTGAGCACATTGTAAAACATCTGAAAGTTGTTTCGGTCATTCTAAAATGCTTCAAACGCCACCATTGCATGTCGGTATTGTCTTCAGAGGAGCAAGTAATTTAATAAATGAAATAAAGATTCACGCAGCTTCTAACCTTTACTGTCGATATTTGACGCCAGATAATCAGGAAGTGACGATTCTGTACTCTTTGACTGTTTTGATGGAAACACTGCTTTATTCGCTCGTCTTTTATGCGATATTCCAGTTATGCGCATACATTGAATTTGAATCTTTGGATGGAAACATAGCTAATGTCACAATGGCATGGAAATTTAATCATAGCATAATATATCTTGCCCAATATGTTTTGTATTCTATAAACAAATCCACTCAGGATCTGTGTTTGTCTCACTAGATGTATTCAGGTGGGCAGT[C/A]GCTGTTAGCAGTGGACCGTCTCTCATTGGCCGTTGGGAAGGGCGAGTGCTTTGGTTTGCTGGGATTTAATGGAGCGGGGAAAACTACAACATTCAAAATGCTGACGGGAGATGAAAGCATCACTTCAGGGGACGCGTTCATTGATGGCTACAGCATCCTTACAGATGTCAAAAAGGTTAGCGCTTTATCTTCGCATTGCAATTTAACTCAAACTTTGATTCTTAAAACTTGAGTTTAACATTTAATAATTTGATTTTATAAAAAGTCCTGTCGCCTATTCAAGTTTTAGGAGCAACAAATAATGACTTCTAGCTGATCGTTTGGTATCAAAAGTGGCTGAATTGATTGATTAATGGTTAATCTTCAATGTCTTCTCCTTCAACTTAGCCCAGACATGCTCAATAATGTTCATGTCTGGTGACTGGGCTGGACAATCCTGGAGCACCTTGAGCTTCTTTGCTTTCAGGAACTTTAATATGGAGGCTGAAGTATGACAAGGA

Associated Phenotype:

Not determined