Product Details

SNP ID: rs138129036
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:4445530 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCTTCTCGATGGCTGACAGGAGCT[C/G]GGGTTTCAGGATGGAGTCCGGCTCG
Phenotype: MIM: 601246 MIM: 611946
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: CHAF1A PubMed Links

Gene Details

Gene: CHAF1A
Gene Name: chromatin assembly factor 1 subunit A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005483.2	1822	Intron			NP_005474.2
XM_011527605.2	1822	Intron			XP_011525907.1
XM_011527606.2	1822	Intron			XP_011525908.1
XM_011527607.2	1822	Intron			XP_011525909.1

Gene: MIR4746
Gene Name: microRNA 4746

There are no transcripts associated with this gene.

Gene: UBXN6
Gene Name: UBX domain protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171091.1	1822	Missense Mutation	CAG,GAG	Q379E	NP_001164562.1
NM_025241.2	1822	Missense Mutation	CAG,GAG	Q432E	NP_079517.1
XM_017027325.1	1822	Missense Mutation	CAG,GAG	Q466E	XP_016882814.1

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