Product Details

SNP ID

rs191308299

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:29616286 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTCCCGGCCCCTCACCTTGCGG[A/G]GCACAGTCATGATGATAGGTTCACA

Phenotype

MIM: 615124 MIM: 606779

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ANKRD13B PubMed Links

Gene Details

Gene

ANKRD13B

Gene Name

ankyrin repeat domain 13B

There are no transcripts associated with this gene.

Gene

CORO6

Gene Name

coronin 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032854.3	997	Missense Mutation	CCC,CTC	P352L	NP_116243.2
XM_005258047.3	997	Missense Mutation	CCC,CTC	P352L	XP_005258104.1
XM_005258048.4	997	Missense Mutation	CCC,CTC	P423L	XP_005258105.2
XM_005258056.4	997	Missense Mutation	CCC,CTC	P118L	XP_005258113.1
XM_011525385.2	997	Missense Mutation	CCC,CTC	P423L	XP_011523687.1
XM_011525386.2	997	Missense Mutation	CCC,CTC	P388L	XP_011523688.1
XM_011525387.2	997	Missense Mutation	CCC,CTC	P382L	XP_011523689.1
XM_011525388.2	997	Missense Mutation	CCC,CTC	P423L	XP_011523690.1
XM_011525389.2	997	Intron			XP_011523691.1
XM_011525390.2	997	Missense Mutation	CCC,CTC	P118L	XP_011523692.1
XM_011525391.2	997	Missense Mutation	CCC,CTC	P118L	XP_011523693.1
XM_017025235.1	997	Missense Mutation	CCC,CTC	P311L	XP_016880724.1

Gene

SSH2

Gene Name

slingshot protein phosphatase 2

There are no transcripts associated with this gene.

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