Product Details

SNP ID

rs4060726

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:57301848 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGAACCTTTCCAACAAGTAAGCTAC[C/T]GGAGAGTGCCTCCAATGCAGAATCC

Phenotype

MIM: 603340

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ASB14 PubMed Links

Gene Details

Gene

ASB14

Gene Name

ankyrin repeat and SOCS box containing 14

There are no transcripts associated with this gene.

Gene

DNAH12

Gene Name

dynein axonemal heavy chain 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291661.1	11459	Missense Mutation	AGT,GGT	S3765G	NP_001278590.1
NM_198564.3	11459	Intron			NP_940966.2
XM_011533466.1	11459	Missense Mutation	AGT,GGT	S3761G	XP_011531768.1
XM_011533467.1	11459	Missense Mutation	AGT,GGT	S3750G	XP_011531769.1
XM_011533468.1	11459	Missense Mutation	AGT,GGT	S3740G	XP_011531770.1
XM_011533469.1	11459	Missense Mutation	AGT,GGT	S3714G	XP_011531771.1
XM_011533471.2	11459	Intron			XP_011531773.1
XM_011533474.1	11459	Intron			XP_011531776.1
XM_017005860.1	11459	Missense Mutation	AGT,GGT	S3761G	XP_016861349.1
XM_017005861.1	11459	Missense Mutation	AGT,GGT	S3261G	XP_016861350.1
XM_017005862.1	11459	Missense Mutation	AGT,GGT	S2625G	XP_016861351.1
XM_017005863.1	11459	Intron			XP_016861352.1

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