Busch Lab

ZMP

LOC100334831

Ensembl ID:
ENSDARG00000033993
Human Orthologue:
SLC19A1
Human Description:
solute carrier family 19 (folate transporter), member 1 [Source:HGNC Symbol;Acc:10937]
Mouse Orthologue:
Slc19a1
Mouse Description:
solute carrier family 19 (sodium/hydrogen exchanger), member 1 Gene [Source:MGI Symbol;Acc:MGI:10318

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa40675 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa40675
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000049465 Essential Splice Site 463 528 5 5
Genomic Location (Zv9):
Chromosome 6 (position 22353856)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 18609393
GRCz11 6 20669943
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATATTTAGCTATTTTGTTCTAATATGATTTTGTTTTTCCTCTCTCTTGC[A/G]GTTTTTTGTTTATTTCTTTTACTTCACCCTGCTGACTGTGATTTATCTGG
Long Flanking Sequence:
NNNNNNNTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTGTTTTCAAAGGGGAAAAAGATTTTGTTTTTAACCCAGACATTAAAAAATATATTTTAGAGCAGTAATCACAATACTGTGATACCGTGAAACCAAGATATTTTTATTTAAGGATATTATACCATCAAAATCTTATATCGGCCCATGCCTAGAAGATACATGAACTAATGAAAAGAGTGAAAAGCAGGACCAATATATTTAGCTATTTTGTTCTAATATGATTTTGTTTTTCCTCTCTCTTGC[A/G]GTTTTTTGTTTATTTCTTTTACTTCACCCTGCTGACTGTGATTTATCTGGGCTGTAGTGCATTCATCATCACGTGTCATTATCGCAATCAGAGGGCAGGCGCCGAGAGTACGGAAGAAGCCGTCAGCACTGAACTTAGTCCCATTGCAACAGCTGCTAGTGAAAGCACTACGGTACATAATGGCACCAGCATCAAGACATGAGATTTAAATGAATTGTGCCTACAGATGGAGAAATCTCCATTTCTTAAACTGTTACGTCAAAATCAGATTGTTTTAATATTTACAAGTAATAAGTATGAATAACCTTAGTGTTATTATTTTTAGTGAGGATTAGCACTGAATATAATTTTGTTTTTGATGCAAGGATCAAGGTTGTCATTAGGATGGATTGTCAATAATAGAAAATATAGGCTTGAATTGAAATAATGTGAACAGATCATTTTGTAAGGAATGTTTGGAAGTCAATTATGGCAAGTTTGGCTTTCTGGTATTTCATAGG
Associated Phenotype:
Not determined