Product Details

SNP ID

rs193058821

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4409104 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAAGGGTCCCTTAGATAACTTTT[C/T]AAGAAATAGAATCGAAACCAGTATT

Phenotype

MIM: 601246 MIM: 601768

Polymorphism

C/T, Transition 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	405	Missense Mutation	TCA,TTA	S102L	NP_005474.2
XM_011527605.2	405	Missense Mutation	TCA,TTA	S102L	XP_011525907.1
XM_011527606.2	405	Missense Mutation	TCA,TTA	S102L	XP_011525908.1
XM_011527607.2	405	Missense Mutation	TCA,TTA	S102L	XP_011525909.1

Gene

SH3GL1

Gene Name

SH3 domain containing GRB2 like 1, endophilin A2

There are no transcripts associated with this gene.

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