Product Details

SNP ID

rs144559047

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:114402862 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCTCCCGGTGCTCCTTGCCCCG[A/C]AGCGTCAGCCCATTCACTTCCAGAA

Phenotype

MIM: 605729 MIM: 607928

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

AKNA PubMed Links

Gene Details

Gene

AKNA

Gene Name

AT-hook transcription factor

There are no transcripts associated with this gene.

Gene

WHRN

Gene Name

whirlin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083885.2	3357	Silent Mutation	CTG,CTT	L489L	NP_001077354.2
NM_001173425.1	3357	Silent Mutation	CTG,CTT	L871L	NP_001166896.1
NM_015404.3	3357	Silent Mutation	CTG,CTT	L872L	NP_056219.3
XM_011518484.1	3357	Silent Mutation	CTG,CTT	L883L	XP_011516786.1
XM_011518485.1	3357	Silent Mutation	CTG,CTT	L883L	XP_011516787.1
XM_011518486.1	3357	Silent Mutation	CTG,CTT	L882L	XP_011516788.1
XM_011518487.1	3357	Silent Mutation	CTG,CTT	L841L	XP_011516789.1
XM_011518488.1	3357	Silent Mutation	CTG,CTT	L802L	XP_011516790.1
XM_011518489.2	3357	Intron			XP_011516791.1
XM_011518491.2	3357	Intron			XP_011516793.1
XM_011518492.1	3357	Intron			XP_011516794.1
XM_011518494.2	3357	Intron			XP_011516796.1
XM_011518495.1	3357	Silent Mutation	CTG,CTT	L442L	XP_011516797.1

View Full Product Details