Product Details

SNP ID

rs61746467

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:729435 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTGCGCTGCAGTGGGGGCTCCT[C/G]AGTGCAGCCCCACACGACTGAGCCA

Phenotype

MIM: 614666 MIM: 610998 MIM: 611118

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCDC78 PubMed Links

Gene Details

Gene

CCDC78

Gene Name

coiled-coil domain containing 78

There are no transcripts associated with this gene.

Gene

FAM173A

Gene Name

family with sequence similarity 173 member A

There are no transcripts associated with this gene.

Gene

HAGHL

Gene Name

hydroxyacylglutathione hydrolase-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290137.1	1323	Silent Mutation	CTC,CTG	L276L	NP_001277066.1
NM_001290139.1	1323	Silent Mutation	CTC,CTG	L276L	NP_001277068.1
NM_001323635.1	1323	Silent Mutation	CTC,CTG	L276L	NP_001310564.1
NM_001323636.1	1323	Missense Mutation	CAG,GAG	Q250E	NP_001310565.1
NM_032304.3	1323	Silent Mutation	CTC,CTG	L276L	NP_115680.1
XM_005255631.4	1323	Intron			XP_005255688.1
XM_005255632.1	1323	Silent Mutation	CTC,CTG	L267L	XP_005255689.1
XM_011522711.1	1323	Intron			XP_011521013.1
XM_011522712.1	1323	Silent Mutation	CTC,CTG	L275L	XP_011521014.1
XM_017023773.1	1323	Intron			XP_016879262.1
XM_017023774.1	1323	UTR 3			XP_016879263.1

Gene

METRN

Gene Name

meteorin, glial cell differentiation regulator

There are no transcripts associated with this gene.

Gene

NARFL

Gene Name

nuclear prelamin A recognition factor like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304799.1	1323	Intron			NP_001291728.1
NM_022493.2	1323	Intron			NP_071938.1

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