Product Details

SNP ID

rs151116717

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:114403937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGTGGGCCTCTCGTTCCGAGGCA[C/G]CTCCTTGCTACTCCTGCTCTTGGTG

Phenotype

MIM: 605729 MIM: 607928

Polymorphism

C/G, 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	3118	Missense Mutation	CTG,GTG	L410V	NP_001077354.2
NM_001173425.1	3118	Missense Mutation	CTG,GTG	L792V	NP_001166896.1
NM_015404.3	3118	Missense Mutation	CTG,GTG	L793V	NP_056219.3
XM_011518484.1	3118	Missense Mutation	CTG,GTG	L804V	XP_011516786.1
XM_011518485.1	3118	Missense Mutation	CTG,GTG	L804V	XP_011516787.1
XM_011518486.1	3118	Missense Mutation	CTG,GTG	L803V	XP_011516788.1
XM_011518487.1	3118	Missense Mutation	CTG,GTG	L762V	XP_011516789.1
XM_011518488.1	3118	Missense Mutation	CTG,GTG	L723V	XP_011516790.1
XM_011518489.2	3118	Intron			XP_011516791.1
XM_011518491.2	3118	Intron			XP_011516793.1
XM_011518492.1	3118	Intron			XP_011516794.1
XM_011518494.2	3118	Intron			XP_011516796.1
XM_011518495.1	3118	Missense Mutation	CTG,GTG	L363V	XP_011516797.1

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