Product Details

SNP ID

rs138579421

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:80202411 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGCCGCGCACGGCACCATCCCCA[A/G]CTACTCCAGGTGAGCAGCTGCCTCG

Phenotype

MIM: 607211 MIM: 605270

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CARD14 PubMed Links

Gene Details

Gene

CARD14

Gene Name

caspase recruitment domain family member 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257970.1	2457	Missense Mutation	AAC,AGC	N737S	NP_001244899.1
NM_024110.4	2457	Missense Mutation	AAC,AGC	N737S	NP_077015.2
NM_052819.2	2457	Intron			NP_438170.1
XM_011525212.1	2457	Missense Mutation	AAC,AGC	N737S	XP_011523514.1
XM_011525213.1	2457	Missense Mutation	AAC,AGC	N737S	XP_011523515.1
XM_011525215.1	2457	Missense Mutation	AAC,AGC	N737S	XP_011523517.1
XM_011525216.1	2457	Missense Mutation	AAC,AGC	N737S	XP_011523518.1
XM_011525217.1	2457	Missense Mutation	AAC,AGC	N737S	XP_011523519.1
XM_011525218.2	2457	Missense Mutation	AAC,AGC	N737S	XP_011523520.1
XM_017025057.1	2457	Missense Mutation	AAC,AGC	N736S	XP_016880546.1
XM_017025058.1	2457	Intron			XP_016880547.1

Gene

LOC105371920

Gene Name

uncharacterized LOC105371920

There are no transcripts associated with this gene.

Gene

SGSH

Gene Name

N-sulfoglucosamine sulfohydrolase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000199.3	2457	Intron			NP_000190.1
XM_005257582.3	2457	Intron			XP_005257639.1
XM_005257583.4	2457	Intron			XP_005257640.1
XM_011525126.1	2457	Intron			XP_011523428.1
XM_011525127.2	2457	Intron			XP_011523429.1
XM_017024951.1	2457	Intron			XP_016880440.1
XM_017024952.1	2457	Intron			XP_016880441.1

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