Product Details

SNP ID

rs143644838

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:110013231 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCCTTGAGGGAGTTCCTGAGCT[A/G]CTCCAAAAAATTCTCGAGGTATCCA

Phenotype

MIM: 615123

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKRD13A PubMed Links

Gene Details

Gene

ANKRD13A

Gene Name

ankyrin repeat domain 13A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033121.1	595	Silent Mutation	CTA,CTG	L112L	NP_149112.1
XM_005253980.2	595	Silent Mutation	CTA,CTG	L112L	XP_005254037.1
XM_005253981.3	595	Silent Mutation	CTA,CTG	L112L	XP_005254038.1
XM_005253982.3	595	Silent Mutation	CTA,CTG	L112L	XP_005254039.1
XM_005253984.1	595	Silent Mutation	CTA,CTG	L24L	XP_005254041.1
XM_011538937.1	595	Silent Mutation	CTA,CTG	L112L	XP_011537239.1
XM_011538938.2	595	Silent Mutation	CTA,CTG	L112L	XP_011537240.1
XM_017020157.1	595	Silent Mutation	CTA,CTG	L112L	XP_016875646.1
XM_017020158.1	595	Silent Mutation	CTA,CTG	L112L	XP_016875647.1
XM_017020159.1	595	Silent Mutation	CTA,CTG	L24L	XP_016875648.1
XM_017020160.1	595	Silent Mutation	CTA,CTG	L24L	XP_016875649.1
XM_017020161.1	595	Silent Mutation	CTA,CTG	L24L	XP_016875650.1
XM_017020162.1	595	Silent Mutation	CTA,CTG	L112L	XP_016875651.1
XM_017020163.1	595	UTR 5			XP_016875652.1

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