Product Details

SNP ID

rs150494865

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:27547314 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACTTCAGTTGGCACTACAGGGAT[A/G]TGACGGTGAATGTGTCCTCGGGGTG

Phenotype

MIM: 615790

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AHDC1 PubMed Links

Gene Details

Gene

AHDC1

Gene Name

AT-hook DNA binding motif containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001029882.3	5865	Missense Mutation	ACA,ATA	T1601I	NP_001025053.1
XM_005245848.3	5865	Missense Mutation	ACA,ATA	T1601I	XP_005245905.1
XM_005245849.3	5865	Missense Mutation	ACA,ATA	T1601I	XP_005245906.1
XM_005245850.3	5865	Missense Mutation	ACA,ATA	T1601I	XP_005245907.1
XM_005245851.3	5865	Missense Mutation	ACA,ATA	T1601I	XP_005245908.1
XM_005245852.3	5865	Missense Mutation	ACA,ATA	T1601I	XP_005245909.1
XM_011541255.1	5865	Missense Mutation	ACA,ATA	T1601I	XP_011539557.1
XM_011541256.2	5865	Missense Mutation	ACA,ATA	T1601I	XP_011539558.1
XM_011541257.2	5865	Missense Mutation	ACA,ATA	T1601I	XP_011539559.1

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